[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"leadSponsorName\":\"National Human Genome Research Institute (NHGRI)\",\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:":517},{"pageToken":4,"total":5,"offset":6,"count":7,"results":8},null,35,0,25,[9,46,71,89,115,137,160,172,182,191,200,209,237,259,278,299,318,349,374,398,422,442,451,474,496],{"id":10,"slug":4,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":4,"eligibilityCriteria":14,"healthyVolunteers":11,"sex":15,"minAge":16,"maxAge":17,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":22,"briefSummary":24,"conditions":25,"keywords":27,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":34,"lastUpdatePostDateStruct":35,"startDateStruct":38,"completionDateStruct":40,"leadSponsor":42,"locationsCount":45},"100054106",false,"NCT06664814","An Open-Label Phase 2 Study of N-Acetyl-D-Mannosamine (ManNAc) in Subjects With Primary Focal Segmental Glomerulosclerosis","* INCLUSION CRITERIA:\n\nIndividuals must meet all the following inclusion criteria to be eligible to participate in this study:\n\n* Prior kidney biopsy demonstrating FSGS obtained within 10 years prior to the screening visit.\n* Age \\>=18 years weighing more than 50 kg.\n* If the patient is on immunosuppressive therapy (e.g., prednisone, cyclosporine, tacrolimus or mycophenolate mofetil) he\u002Fshe should be on these medications for at least 3 months prior to study evaluation and should be on a stable dose of the medication for at least 4 weeks before start of trial, with no plans to alter the regimen during 12 weeks of study period, except to stabilize levels and\u002For for any safety concerns.\n* Subjects will be allowed to continue with standard of care (SOC) non-immunosuppressant antiproteinuric agents to include RAAS inhibitors, mineralocorticoid antagonists (MRA), sodium-glucose co-transporter-2 inhibitors (SGLT2i), non-dihydropyridine calcium channel blockers (NDHP-CCBs), and glucagon-like peptide-1 (GLP-1) receptor agonists, in addition to other SOC adjuvant therapies such as diuretics, if they are able to maintain a stable dose throughout the trial. Subjects and their primary nephrologists will be encouraged to optimize their SOC treatments as much as possible prior to trial commencement. Subjects must be on a stable dose for at least 4 weeks before start of trial. Subjects should attempt to keep stable doses of both immunosuppressants and anti-proteinuric drugs throughout trial duration, to avoid confounding effects. Patients not receiving any of these SOC agents either due to allergy or intolerance will still be eligible.\n* Subjects must have a spot random urine PCR of \\>= 2g\u002Fg on each of 3 measurements collected on at least 2 separate days during screening period plus a 24-hr urine protein collection of \\>= 2g\u002Fday. The rationale for using this degree of proteinuria is that proteinuria beyond this threshold value significantly increases the risk of progressive decline of renal functions in the absence of effective therapies to mitigate this risk. Conversely, this threshold value could also allow for the selection of a cohort of patients who are most likely to benefit from ManNAc therapy.\n* Subjects with an estimated glomerular filtration rate (eGFR) \\>=45 mL\u002Fmin\u002F1.73\u002Fm\\^2 using the race-free CKD-EPI 2021 equation based on creatinine and cystatin-C \\[Inker et al, 2021\\]. The rationale is that below this eGFR threshold, sialic acid, the key metabolite of ManNAc markedly accumulates and may potentially result in systemic toxicity. Prior pharmacokinetic studies have shown that renal elimination of sialic acid is primarily through glomerular filtration, and it is neither reabsorbed nor secreted in the renal tubules. Hence decline in eGFR below 45 mL\u002Fmin\u002F1.73m\\^2 directly correlates with rising blood sialic acid levels \\[Fuentes et al, 2020\\], in addition, these subjects may not benefit as much from ManNAc therapy as they have advanced disease pathology, which may be irreversible. Future studies with personalized precision ManNAc dosing may benefit the patient population with eGFR \\\u003C45 mL\u002Fmin\u002F1.73m\\^2.\n* Subjects of reproductive potential must be willing to use at least one effective form of birth control throughout the trial period, unless they have had a permanent birth control procedure\u002Fintervention including but not limited to hysterectomy, tubal ligation and\u002For vasectomy. These may include the following: barrier methods (such as condoms), oral or depot injection (for example, Norplant or Depo-Provera) contraception medication, and\u002For intrauterine devices.\n* Evidence of a personally signed and dated informed consent indicating that the patient has been informed of all pertinent aspects of the study and their willingness to comply with all aspects of the study and their willingness to comply with all aspects of the study protocol, including treatment plan, laboratory tests, baseline and follow-up visits and procedures that include completion of daily diaries to record symptoms and medication intake.\n\nEXCLUSION CRITERIA:\n\nAn individual who meets any of the following criteria will be excluded from participation in this study:\n\n* Individuals who are unwilling or unable to provide informed consent.\n* Individual presenting for initial therapy of uncontrolled nephrotic syndrome which we define as proteinuria as measured by spot urine protein:creatinine ratio \\>3g\u002Fg or 24-hour urine protein excretion of \\>3.5g\u002Fday with symptomatic peripheral edema or pulmonary edema, hypoalbuminemia (serum albumin \\\u003C3.0g\u002Fdl), electrolyte disturbances (related or unrelated to medical therapy), and\u002For active thromboembolism (initiated on systemic anticoagulation in the last 3 months). The rationale for this criterion is that patient presenting for initial therapy for uncontrolled nephrotic syndrome may need to be initiated on various medications including immunosuppressives as well as non-immunosuppressive drugs which can significantly change the level of proteinuria. Additionally, fluid shifts due to diuretic use for treating edema can alter GFR which could confound the pharmacokinetics and pharmacodymanics of the investigational drug.\n* Individuals who acutely require optimization of volume status with intravenous diuretics to control volume overload, as this may result in fluid shifts between the intravascular space and the remainder of extracellular fluid volume. This might alter drug pharmacokinetics and pharmacodynamics as mentioned above in # 2.\n* Individuals with a psychiatric illness or neurological disease that in the judgement of the investigators would interfere with the ability to adhere with the requirements of this protocol. This includes, but is not limited to, uncontrolled\u002Funtreated psychotic depression, bipolar disorder, schizophrenia, substance abuse or dependence, antisocial personality disorder, panic disorder, or behavioral problems, which might interfere with effective communication.\n* Vulnerable individuals, including those with impaired cognitive function or are incarcerated.\n* Individuals whose renal biopsy shows evidence of an additional pathology along with FSGS.\n* Renal biopsy showing interstitial fibrosis and tubular atrophy (IFTA) \\>50% per biopsy report.\n* Individuals with uncontrolled hypertension with blood pressures consistently \\>140\u002F90 mmHg on 3 or more community clinic blood pressure measurements.\n* Individuals with clinical evidence of any type of active infection including but not limited to HIV, Hepatitis B and\u002For Hepatitis C or patients who are positive on screening test for HIV including antibody or viral load, HBV surface antigen and\u002For HCV antibody. If a patient is positive for HCV antibody, then an HCV viral load will be measured to identify subjects with active infection. Additional tests may include those to screen for active CMV, Infectious Mononucleosis (Epstein-Barr Virus), parvovirus B19 and\u002For COVID-19 infection as per investigator judgement.\n* Individuals with evidence and\u002For documented history of progressive deterioration of liver functions, including the production of clotting factors, removal of toxic metabolic products, bile excretion for at least 6 months, routine hepatic laboratory indices including but not limited to (AST, ALT, or GGT) greater than 3 times the upper limit of normal, and\u002For individuals with a documented history and\u002For diagnosis of chronic liver disease.\n* Individuals with hypertriglyceridemia \\>500 mg\u002FdL.\n* Individuals with a documented history of malignancy (identified in last 5 years or on active therapy at time of screening).\n* Individuals with a documented history of Type I or Type II Diabetes Mellitus\n* Individuals with documented history of hematological conditions commonly associated with FSGS such as sickle cell disease and myeloproliferative disorders.\n* Individuals with a documented history of cardiac conditions commonly associated with FSGS such as congenital cyanotic heart disease. Individuals with a documented history of connective tissue disorders commonly associated with FSGS such as SLE and multiple sclerosis.\n* Individuals taking medications (either currently or within the last 6 months) associated with FSGS such as interferons, lithium, androgenic steroids, sirolimus, heroin, anthracyclines and bisphosphonates.\n* Individuals who are pregnant, will be breastfeeding or refuse birth control anytime during the study.\n* Individuals who have received treatment with another investigational drug, investigational device, or approved therapy for investigational use less than 60 days prior to planned ManNAc dosing.\n* Individuals with hypersensitivity to ManNAc.\n* Individuals who have been treated with ManNAc, sialic acid, IVIG, and\u002For other supplements containing sialic acid (e.g., sialyllactose) less than 60 days prior to planned ManNAc dosing.\n* Individuals who received a renal or any other solid organ and\u002For bone marrow\u002Fstem cell transplantation.\n* Individuals who in the judgment of the investigator, have a condition that places the subject at increased risk for AEs or has any other illness or clinical condition that might confound the results of the study or pose an additional risk in administering study drug to the subject.\n* Patients who need systemic immunosuppressive or glucocorticoid therapy for non-renal indication at any time throughout the trial.\n* Any patient receiving rituximab, cyclosphosphamide and\u002For plasmapheresis within 6 months of screening.\n* A documented history of active alcohol and\u002For substance abuse within the past 2 years.\n* Any patient with collapsing FSGS variant on renal biopsy.\n* Individuals with clinical history suggesting a post-adaptive FSGS such as those with neonatal history of low birth weight, congenital anomaly of the kidney or urinary tract (CAKUT) based on renal ultrasound findings or history of nephrectomy, vesicoureteral reflux or obesity as defined by Body Mass Index (BMI) \\> 40kg\u002Fm\\^2.","ALL","18 Years","115 Years",{"count":19,"type":20},30,"ESTIMATED","INTERVENTIONAL",[23],"PHASE2","Background:\n\nFocal segmental glomerulosclerosis (FSGS) is a disease that causes scarring in parts of the kidneys that filter waste. This can lead to protein loss in the urine, which can worsen kidney function. The kidneys may fail over time, and dialysis or a kidney transplant may be needed. Other treatments for this disease do not always work and often have adverse effects. Better treatments for FSGS are needed.\n\nObjective:\n\nTo test a study drug (ManNAc) in people with FSGS.\n\nEligibility:\n\nPeople aged 18 years and older with FSGS.\n\nDesign:\n\nParticipants will have 5 to 6 clinic visits over 14 weeks. Two of the visits will require overnight stays for 2 or 3 nights.\n\nManNAc is a white powder that comes in a sachet. It is dissolved in water and taken twice a day by mouth. Participants will take their first dose at the clinic. They will learn how to store ManNAc and prepare each dose. They will record their doses in a diary. They will also write down any adverse effects or troubles they have using the drug at home.\n\nDuring clinic visits, participants will have physical exams with blood and urine tests. They will complete questionnaires about their health, sleep habits, and fatigue symptoms.\n\nDuring overnight visits, participants will also have 24-hour urine collection.\n\nA study team member will call participants 1 week after the first dose to check on their health. Follow-up phone calls will then be every 2 weeks after each clinic visit.\n\nParticipants may meet with a dietitian to discuss nutrition while taking the ManNAc.\n\nParticipants may choose to have genetic tests.",[26],"Focal Segmental Glomerulosclerosis",[28,29,30,31,32],"FSGS","ManNAc","Sialic Acid","Proteinuria","Kidney Disease","RECRUITING","2026-07-10",{"date":36,"type":37},"2026-07-13","ACTUAL",{"date":39,"type":20},"2026-07-16",{"date":41,"type":20},"2027-12-01",{"name":43,"class":44},"National Human Genome Research Institute (NHGRI)","NIH",1,{"id":47,"slug":4,"hasResults":11,"nctId":48,"briefTitle":49,"officialTitle":49,"acronym":4,"eligibilityCriteria":50,"healthyVolunteers":51,"sex":15,"minAge":52,"maxAge":53,"enrollmentInfo":54,"targetDuration":4,"studyType":56,"phases":4,"briefSummary":57,"conditions":58,"keywords":60,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":34,"lastUpdatePostDateStruct":66,"startDateStruct":67,"completionDateStruct":68,"leadSponsor":70,"locationsCount":45},"100053456","NCT05657405","Observational Study of Advanced Data Analytics in Genetic Conditions","* INCLUSION CRITERIA:\n\nTo be eligible to participate in the website-based data collection portion, individuals must be known or suspected to have a genetic condition, or to be the relative of a person with a known or suspected genetic condition, and be willing to consent to and share the requested information with the study team. Adults unable to provide consent must have a Legally Authorized Representative \\[LAR\\] (who can provide evidence of this status by providing guardianship paperwork, which will be verified) be able to provide consent.\n\nTo be eligible for the Clinical Center-based portion of this study, an individual must meet all of the following criteria:\n\n* Stated willingness to comply with all study procedures and availability for the duration of the study\n* Male or female, from age 0 to over 100 years of age (the NIH Clinical Center's age-based eligibility criteria will be followed for any individuals who come to the Clinical Center for participation such that individuals \\\u003C3 years of age will have a screening form submitted to the Pediatrics consult service, and admissions will follow current Clinical Center limits based on age such that admissions to 1NW generally have to be \\> 2 years of age)\n* Either:\n\n  * A person who is known or suspected to have a genetic condition based on medical and\u002For family history\n  * A person who is a family member of a person known or suspected to have a genetic condition (and who is themselves not known or suspected to have a genetic condition)\n  * Ability of subject (or Legally Authorized Representative \\[LAR\\], who can provide evidence of this status, as described above) to understand and the willingness to sign a written informed consent document.\n\nTo be eligible for the virtual conversation portion of this study, an individual must meet all of the following criteria:\n\n* Stated willingness to comply with all study procedures and availability for the duration of the study\n* Either:\n\n  * A person over 18 years of age who is known to have a genetic condition based on medical and\u002For family history\n  * A parent or guardian of a person known to have a genetic condition (and who is themselves not known or suspected to have a genetic condition)\n* Ability of subject (or Legally Authorized Representative \\[LAR\\], who can provide evidence of this status, as described above) to understand and the willingness to sign a written informed consent document.\n\nEXCLUSION CRITERIA:\n\nIndividuals who are pregnant will be excluded from the Clinical Center-based portion of the study. There are no other exclusionary criteria except that individuals will be excluded from participation in this study if they are unable or unwilling to participate.\n\nThe PI\u002FAI may decline to enroll a patient for reasons such as being medically unstable, residing in a hospital, or for any concerns arising after review of the laboratory and clinical data.",true,"1 Day","120 Years",{"count":55,"type":20},1250,"OBSERVATIONAL","Background:\n\nThe genes a person is born with can sometimes cause serious diseases. Genetic diseases are rare, but they can have a big impact on the people they affect. Researchers have already made great strides in understanding how some genes cause disease. But they would like to have even better tools to analyze and understand genetic data. To create these new tools, they need to gather health and genetic data from a lot of people.\n\nObjective:\n\nThis natural history study will gather medical information from people with genetic conditions.\n\nEligibility:\n\nPeople of any age who (1) are known or suspected to have a genetic condition or (2) have a family member with a known or suspected genetic condition.\n\nDesign:\n\nParticipants will come to the clinic for up to 4 days. Tests to be performed will vary depending on the nature of each participant s health issue. The tests may include:\n\nBlood and saliva. Blood may be drawn from a vein; cells and saliva may be collected by rubbing the inside of the cheek with a swab. These would be used for genetic testing.\n\nImaging scans. Participants may have X-rays or other scans of their bodies. They may lie still on a table while a machine records the images.\n\nHeart tests. Participants may lie still while a technician places a probe on their chest. They may also have stickers attached to wires placed on their chest.\n\nPhotographs and recordings. Pictures may be taken of facial features, skin changes, or other effects of the genetic condition. Video and audio recordings may also be made.\n\nSome people may be able to participate via telehealth.",[59],"Genetic Conditions",[61,59,62,63,64,65],"Artificial Intelligence","Deep Learning","Advanced Analytics","Computer Vision","Natural History",{"date":36,"type":37},{"date":39,"type":20},{"date":69,"type":20},"2032-12-31",{"name":43,"class":44},{"id":72,"slug":4,"hasResults":11,"nctId":73,"briefTitle":74,"officialTitle":74,"acronym":4,"eligibilityCriteria":75,"healthyVolunteers":11,"sex":15,"minAge":16,"maxAge":17,"enrollmentInfo":76,"targetDuration":4,"studyType":56,"phases":4,"briefSummary":78,"conditions":79,"keywords":81,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":34,"lastUpdatePostDateStruct":83,"startDateStruct":84,"completionDateStruct":85,"leadSponsor":87,"locationsCount":88},"100053923","NCT06948110","Deciphering the Genetic Architecture of Autoimmune Diseases","* INCLUSION CRITERIA:\n\nAny person who meets the criteria for inclusion in the study will be considered and must have the patient's signed informed consent for participation.\n\nAutoimmune Disease Diagnosis:\n\nCases:\n\n* Patients diagnosed with SLE, Sjogren's disease, scleroderma, rheumatoid arthritis, seronegative spondyloarthropathies, and systemic vasculitis, as defined by the American College of Rheumatology classification criteria.\n* Over 18 years old\n\nControls:\n\n* Family members of identified cases, and unrelated individuals. The controls would be from the same community as the patients and families studied, and of the same age and gender. Screening for autoimmune diseases and allergic diseases will be performed.\n* Over 18 years old\n\nEXCLUSION CRITERIA:\n\n-People diagnosed with a chronic viral disease: HIV, hepatitis C or HTLV-1.",{"count":77,"type":20},300,"Background:\n\nAutoimmune diseases can be caused by genes people inherit from their parents. The gene changes that cause these diseases have been well studied in people with European and Asian ancestors. But some diseases behave differently in people who are native to North and South America. Researchers want to know more about the gene changes and other factors that may cause autoimmune diseases among these people. This project will be based in Peru.\n\nObjective:\n\nTo study how gene changes can lead to autoimmune diseases in people native to Peru.\n\nEligibility:\n\nPeople aged 18 years and older with an autoimmune disease. These may include systemic lupus erythematosus; Sjogren disease; scleroderma; rheumatoid arthritis; seronegative spondylo-arthropathies; and systemic vasculitis. Family members and healthy volunteers are also needed.\n\nDesign:\n\nParticipants will have 2 clinic visits; these will be 2 weeks apart. The clinics will be in Lima, Iquitos, and other sites in Peru.\n\nVisit 1: Participants will have a physical exam. They will answer questions about their health risks and habits. They will provide blood and urine samples.\n\nVisit 2: Participants will provide a second blood sample and a stool sample. They will talk about the results of their first clinical exam with researchers.\n\nThe cost of travel to and from the clinics will be provided. Participants will get $30 per visit and a snack.",[80],"Autoimmune Diseases",[82],"Systemic Lupus Erythematosus",{"date":36,"type":37},{"date":39,"type":20},{"date":86,"type":20},"2030-04-22",{"name":43,"class":44},2,{"id":90,"slug":4,"hasResults":11,"nctId":91,"briefTitle":92,"officialTitle":93,"acronym":4,"eligibilityCriteria":94,"healthyVolunteers":11,"sex":15,"minAge":95,"maxAge":96,"enrollmentInfo":97,"targetDuration":4,"studyType":56,"phases":4,"briefSummary":99,"conditions":100,"keywords":103,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":34,"lastUpdatePostDateStruct":110,"startDateStruct":111,"completionDateStruct":112,"leadSponsor":114,"locationsCount":45},"100054014","NCT06595940","Genetic Analysis of Uncommon Disease Presentations in Non-US Populations","Genomic Sequencing for Evaluation of Uncommon Disease Manifestations Through the Childhood Complex Disease Genomic Section","* INCLUSION CRITERIA:\n\nTo be eligible to participate in this study, an individual must meet all of the following criteria:\n\n1. Stated willingness to comply with all study procedures and availability for the duration of the study.\n2. Probands aged \\>2 years at enrollment or first-degree relatives of probands (age \\>2 years).\n3. Suspicion of genetic etiology of illness due to strong family history, precocious onset, severity or mildness of phenotype, or all factors being present.\n4. Affected individuals and unaffected family members, determination of clinical criteria for inclusion will be determined by medical record review prior to participation.\n5. Ability of participant and their parent or guardian to understand and have willingness to sign a written informed consent and\u002For assent document.\n\nEXCLUSION CRITERIA:\n\nAn individual who meets any of the following criteria will be excluded from participation in this study:\n\n1. Anyone unwilling to provide informed consent (for themselves as adults, on behalf of their children as minors, or on behalf of an adult who is unable to provide consent for themselves) or assent.\n2. Individuals who have undergone diagnostic testing for a genetic condition AND the test results were positive.\n3. Evidence that symptoms are secondary or caused by an undiagnosed condition that is unlikely to have a genetic cause.\n4. In the opinion of the investigator, participant has a condition that would preclude participation in the study by interfering with the participant s ability to engage in the required protocol evaluation and testing.","2 Years","100 Years",{"count":98,"type":20},400,"Background:\n\nGenetics research over the past 20 years has helped researchers find the causes of many diseases. More powerful tools for genetic testing now exist. Researchers want to use these new tools to learn more about genetic diseases. They want to look for possible genetic causes of unusual diseases. They will focus on people who live outside of the United States and whose access to genetic testing has been limited.\n\nObjective:\n\nTo look for potential genetic sources of diseases among children and their families.\n\nEligibility:\n\nChildren aged 2 to 18 years and their related family members who have or may have a genetic disease. They will reside primarily outside of the US.\n\nDesign:\n\nParticipants will be recruited at sites outside of the US. Participants will be screened. Their existing medical records will be reviewed. They will have a physical exam. They will answer questions about their family history and symptoms. Participants will provide samples for genetic testing. They may have blood drawn. They may spit saliva into a small container. They may have a cotton swab rubbed on the inside of the mouth. The samples will be shipped to the NIH for genetic testing. Participants will be notified if testing reveals a known disease. Participants may be asked to provide new samples to confirm the diagnosis. Local study teams will contact the participants about the results. Participants will also be notified if analysis yields gene variants that may cause disease.",[101,102],"Undiagnosed Diseases","Rare Diseases",[104,105,106,107,108,109],"Genetics","Genomic sequencing","Under-represented populations","Medical genetics","Clinical Phenotype","Uncommon disease",{"date":36,"type":37},{"date":39,"type":20},{"date":113,"type":20},"2034-08-21",{"name":43,"class":44},{"id":116,"slug":4,"hasResults":11,"nctId":117,"briefTitle":118,"officialTitle":119,"acronym":4,"eligibilityCriteria":120,"healthyVolunteers":51,"sex":15,"minAge":121,"maxAge":96,"enrollmentInfo":122,"targetDuration":4,"studyType":56,"phases":4,"briefSummary":124,"conditions":125,"keywords":129,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":34,"lastUpdatePostDateStruct":131,"startDateStruct":132,"completionDateStruct":134,"leadSponsor":136,"locationsCount":88},"100054286","NCT02890342","Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia","The Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia","* INCLUSION CRITERIA:\n* Patients 2 years of age or older, of any gender and ethnicity, with propionic acidemia are eligible to enroll in this protocol. Patients diagnosis will be confirmed based on biochemical and\u002For molecular and enzymatic testing. Participants of any gender and ethnicity over 1 month of age are eligible to enroll remotely for collection of outside records and natural history data. They will be eligible to enroll in the full study for in-person evaluation at 2 years of age.\n* Unaffected family members over 1 month of age, of any ethnicity or race, may be included in the study as household controls for microbiome studies and\u002For for genetic analysis. Studies in unaffected family members may include collection of medical and family history; if necessary completion of physical examination; drawing of blood for research purposes include testing of DNA; collection of stool samples for microbiome studies; collection of dietary history using pen-and-paper or electronic food diary and questionnaires; collection of saliva for metabolite and DNA analysis. In some unaffected family members without a known familial cause of propionic acidemia, exome sequencing or genome sequencing could be performed. Unaffected family members will not receive direct benefit from taking part in the study.\n* If a participant becomes pregnant while on study, the participant can remain on study. The only way to learn more about the critical biological differences in those who affected with propionic acidemia who are pregnant is to continue to follow pregnant women on study.\n\nHowever, no tests or procedures that are greater then minimal risk will be performed. Affected subjects who are pregnant may undergo procedures as part of their clinical care, including blood draws, genetic studies, and consultations, according to the clinical judgement of the clinical team. However, pregnant participants will be excluded from procedures such as organ tissue collection, stable isotope studies, GFR testing, and brain or cardiac MRI until the pregnancy is concluded.\n\n* Healthy volunteers may be eligible to participate in the study if they are between 12 - 40 years of age, must meet specific BMI criteria (similar to affected individuals studied).\n* Patients with propionic acidemia over 1 month of age, of any gender and ethnicity, undergoing a transplantation surgery at Children s Hospital of Pittsburgh, are eligible to participate in the tissue collection arm of the study.\n\nEXCLUSION CRITERIA:\n\n* The PI\u002FAI may decline to enroll a patient because of poor metabolic control, lack of a primary metabolic\u002Fgenetics physician, and intercurrent infection are exclusion criteria for this protocol, the likelihood that an acutely ill or poorly controlled patient will enroll will be minimized.\n* A subset of participants may be enrolled in the tissue collection part of the study only (i.e. if they are too sick to travel). We can may also arrange limited remote consultation with our research team and NIH consultants, the participants referring physician and the participant\u002Ftheir legal guardian through the telephone or an NIH supported telehealth platform for participants who are unable to safely travel to NIH. This would not replace a study visit but would be used when travel isn t possible due to extenuating circumstances (e.g. pandemic). Participants would be encouraged to follow-up for a more thorough in-person evaluation when they are able to travel to NIH.\n* For the healthy volunteers, they will be excluded if they have halitosis, cavities, dental or gingival problems, respiratory diseases (for example, asthma or recent history of COVID19), use tobacco products (for example, cigarette smoking or chewing tobacco), or use electronic nicotine delivery systems (for example, use of e-cigarettes or vaping devices), as this may interfere with accurate measurement of their volatile organic compounds. NIH staff and their family members will be eligible to participate in the healthy volunteer portion of the study.","1 Month",{"count":123,"type":20},1045,"Background:\n\nPeople s bodies need to break down food into the chemicals. These chemicals are used for energy and growth. Some people cannot process all chemicals very well. Too much of some chemicals can cause diseases. One of these diseases is called propionic acidemia (PA). People with PA can have problems with growth, learning heart, abdomen, and other organs. Researchers want to better understand how these problems happen.\n\nObjective:\n\nTo learn more about propionic acidemia and the genes that might contribute to it.\n\nEligibility:\n\nPeople at least 2 years old with PA who can travel to the clinic\n\nSome unaffected family members\n\nDesign:\n\nParticipants will have a 3 to 5-day hospital visit every year or every few years. Family members may have just 1 visit.\n\nDuring the family member visit, they may have:\n\nMedical history\n\nPhysical exam\n\nSamples of blood and urine\n\nQuestions about diet and a food diary\n\nDoctors and nurses may do additional studies:\n\nSamples of saliva, skin and stool\n\nFluid from a gastronomy tube, if participants have one\n\nDental and eye evaluations\n\nA kidney test - a small amount of dye will be injected and blood will be collected.\n\nConsultations with specialists\n\nA test of calories needed at rest. A clear plastic tent is placed over the participant to measure breathing.\n\nStable isotope study. Participants will take a nonradioactive substance then blow into a bag.\n\nPhotos taken of the face and body with underwear on\n\nUltrasound of the abdomen\n\nHeart tests\n\nHand x-ray\n\nBrain scan\n\nParticipants may have other tests if study doctors recommend them. They will get the results of standard medical tests and genetic tests.",[126,127,128],"Metabolic Disease","Propionic Acidemia","Organic Acidemia",[128,130,65],"Inborn Errors of Metabolism",{"date":36,"type":37},{"date":133,"type":37},"2016-11-29",{"date":135,"type":20},"2036-08-31",{"name":43,"class":44},{"id":138,"slug":4,"hasResults":11,"nctId":139,"briefTitle":140,"officialTitle":141,"acronym":4,"eligibilityCriteria":142,"healthyVolunteers":11,"sex":15,"minAge":121,"maxAge":143,"enrollmentInfo":144,"targetDuration":4,"studyType":56,"phases":4,"briefSummary":146,"conditions":147,"keywords":150,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":34,"lastUpdatePostDateStruct":156,"startDateStruct":157,"completionDateStruct":4,"leadSponsor":159,"locationsCount":45},"100053394","NCT00001403","Study of Proteus Syndrome and Related Congenital Disorders","The Phenotype and Etiology of Proteus Syndrome","* INCLUSION CRITERIA:\n\nAll patients who meet clinical diagnostic criteria for PS, or who have demonstrated AKT1 p.Glu17Lys variants are considered eligible for this protocol. As well, we will generally offer an in-person evaluation at the NIHCC to patients with PS whenever possible.\n\nAs these disorders are usually apparent at or soon after birth, and appear to evolve at least into the third decade of life, early assessment and long-term follow-up are necessary. We have already learned that PS has a high pediatric mortality rate. PS and other overgrowth disorders are progressive and for some individuals, may warrant more frequent observation during youth and adolescence. Therefore, it would not be practicable or ethical to exclude children from enrollment.\n\nPatients with overgrowth that is not definitively PS (i.e., who do not appear to meet clinical diagnostic criteria) may also be eligible to participate in this study. Decisions to invite patients in this group to the NIHCC for an in-person evaluation are made on a case-by-case basis where the patient s phenotype, health, proximity to the NIH, and fit with our current research aims will all be taken into account. In general, we will consider subjects who have one or more of the manifestations from the PS clinical criteria as eligible.\n\nEnrollment of adults with impaired decision-making capacity is scientifically justified because PS is an ultra-rare disorder where 10-15% of patients have significant cognitive impairment and gaining a better understanding of this aspect of the phenotype (as well as the other concerns adult patients may present with) is critical to advancing our knowledge of this disorder. Progression of overgrowth, particularly the fibroadipose overgrowth in CLOVES syndrome, is a significant issue in many adults with this condition and understanding the trajectory of overgrowth throughout the lifespan is an important goal of this study.\n\nThis protocol enrolls participants of all ages which includes women of child-bearing age. We recognize that women may become pregnant during the course of this study. While we have not documented a case of a female with Proteus syndrome becoming pregnant it is important to gather clinical data if such a case occurs in order to better understand the natural history of Proteus syndrome and related disorders.\n\nSince we enroll people of all ages, some of the women we enroll may become pregnant during the course of the study. No radiation imaging studies will be done on women if they are known to be pregnant. We will screen all women of reproductive age with a pregnancy test prior to surgery, as per standard surgical practice.\n\nThere are no exclusions for race, age, or gender for participants.\n\nEXCLUSION CRITERIA:\n\nPatients with cancer but who do not have overgrowth or other non-tumor manifestations of PS or non-PS overgrowth, whose tumors may harbor AKT1, PIK3CA, or other variants, are not eligible for this study. In general, patients who clearly meet diagnostic criteria for a well-characterized overgrowth syndrome that is NOT PS are not eligible for this study. Bannayan-Riley-Ruvalcaba syndrome and PHACES syndrome are examples of such entities. We will not enroll prisoners, healthy volunteers, or lab personnel. Some persons with PS and other overgrowth conditions are intellectually disabled (ID) or developmentally delayed (probably \\~10%). The consent issues are no different for children with ID than developmentally appropriate children except that assent will be judged by developmental level instead of age. Patients who are adults and decisionally-impaired are eligible only if they have a legal guardian who has authority to sign a consent form on their behalf. Patients who are medically fragile or unable to tolerate travel to the NIHCC will not routinely be eligible for participation.\n\nWe will request permission to retain some information about prospective participants who may not be immediately enrolled. As these participants will not immediately be signing a consent form and joining the study, we propose to NOT count these participants in our Inclusion Enrollment Reports until they have formally enrolled in the study (that is, they have signed consent forms).\n\nWe will not enroll neonates (newborns less than one month old).","99 Years",{"count":145,"type":20},1500,"This study will examine rare congenital disorders that involve malformations and abnormal growth. It will focus on patients with Proteus syndrome, whose physical features are characterized by overgrowth, benign tumors of fatty tissue or blood vessels, asymmetric arms or legs, and large feet with very thick soles. The study will explore the genetic and biochemical cause and course of the disease, the changes in symptoms over time, and the effects of the disease on patients.\n\nPatients with Proteus syndrome may be eligible for this study. Study candidates will have a medical history and physical examination, including X-rays and possibly other imaging tests, such as computerized tomography (CT), magnetic resonance imaging (MRI) and ultrasound. Other tests and examinations may be done if needed.\n\nThose enrolled in the study may be interviewed or complete questionnaires, or both, about how their disease affects them. Patients will provide a small blood sample for research....",[148,149],"Proteus Syndrome","PIK3CA Related Overgrowth Spectrum",[151,152,153,154,155,65],"Sporadic","Mosaic","Growth Disorder","Progressive","Multiple Abnormalities",{"date":36,"type":37},{"date":158,"type":37},"1994-04-27",{"name":43,"class":44},{"id":161,"slug":4,"hasResults":11,"nctId":73,"briefTitle":74,"officialTitle":74,"acronym":4,"eligibilityCriteria":75,"healthyVolunteers":11,"sex":15,"minAge":16,"maxAge":17,"enrollmentInfo":162,"targetDuration":4,"studyType":56,"phases":4,"briefSummary":78,"conditions":163,"keywords":164,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":165,"lastUpdatePostDateStruct":166,"startDateStruct":168,"completionDateStruct":170,"leadSponsor":171,"locationsCount":88},"100588953",{"count":77,"type":20},[80],[82],"2026-07-01",{"date":167,"type":37},"2026-07-02",{"date":169,"type":20},"2026-07-07",{"date":86,"type":20},{"name":43,"class":44},{"id":173,"slug":4,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":4,"eligibilityCriteria":14,"healthyVolunteers":11,"sex":15,"minAge":16,"maxAge":17,"enrollmentInfo":174,"targetDuration":4,"studyType":21,"phases":175,"briefSummary":24,"conditions":176,"keywords":177,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":165,"lastUpdatePostDateStruct":178,"startDateStruct":179,"completionDateStruct":180,"leadSponsor":181,"locationsCount":45},"100567179",{"count":19,"type":20},[23],[26],[28,29,30,31,32],{"date":167,"type":37},{"date":169,"type":20},{"date":41,"type":20},{"name":43,"class":44},{"id":183,"slug":4,"hasResults":11,"nctId":91,"briefTitle":92,"officialTitle":93,"acronym":4,"eligibilityCriteria":94,"healthyVolunteers":11,"sex":15,"minAge":95,"maxAge":96,"enrollmentInfo":184,"targetDuration":4,"studyType":56,"phases":4,"briefSummary":99,"conditions":185,"keywords":186,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":165,"lastUpdatePostDateStruct":187,"startDateStruct":188,"completionDateStruct":189,"leadSponsor":190,"locationsCount":45},"100561882",{"count":98,"type":20},[101,102],[104,105,106,107,108,109],{"date":167,"type":37},{"date":169,"type":20},{"date":113,"type":20},{"name":43,"class":44},{"id":192,"slug":4,"hasResults":11,"nctId":48,"briefTitle":49,"officialTitle":49,"acronym":4,"eligibilityCriteria":50,"healthyVolunteers":51,"sex":15,"minAge":52,"maxAge":53,"enrollmentInfo":193,"targetDuration":4,"studyType":56,"phases":4,"briefSummary":57,"conditions":194,"keywords":195,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":165,"lastUpdatePostDateStruct":196,"startDateStruct":197,"completionDateStruct":198,"leadSponsor":199,"locationsCount":45},"100489767",{"count":55,"type":20},[59],[61,59,62,63,64,65],{"date":167,"type":37},{"date":169,"type":20},{"date":69,"type":20},{"name":43,"class":44},{"id":201,"slug":4,"hasResults":11,"nctId":117,"briefTitle":118,"officialTitle":119,"acronym":4,"eligibilityCriteria":120,"healthyVolunteers":51,"sex":15,"minAge":121,"maxAge":96,"enrollmentInfo":202,"targetDuration":4,"studyType":56,"phases":4,"briefSummary":124,"conditions":203,"keywords":204,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":165,"lastUpdatePostDateStruct":205,"startDateStruct":206,"completionDateStruct":207,"leadSponsor":208,"locationsCount":88},"100277362",{"count":123,"type":20},[126,127,128],[128,130,65],{"date":167,"type":37},{"date":133,"type":37},{"date":135,"type":20},{"name":43,"class":44},{"id":210,"slug":4,"hasResults":11,"nctId":211,"briefTitle":212,"officialTitle":212,"acronym":4,"eligibilityCriteria":213,"healthyVolunteers":11,"sex":15,"minAge":52,"maxAge":96,"enrollmentInfo":214,"targetDuration":4,"studyType":56,"phases":4,"briefSummary":216,"conditions":217,"keywords":222,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":232,"lastUpdatePostDateStruct":233,"startDateStruct":234,"completionDateStruct":4,"leadSponsor":236,"locationsCount":45},"100060318","NCT00029965","Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders","* INCLUSION CRITERIA:\n\nAny individual with GM1 or GM2 gangliosidosis, sialidosis or galactosialidosis documented by enzyme deficiency or mutation analysis in a CLIA-approved laboratory will be eligible for the study.\n\nEXCLUSION CRITERIA:\n\nThere will be no exclusion based on race, gender, or ethnicity; however particular ethnic groups may be overrepresented due to the frequency of the diseases in a specific population (e.g., Ashkenazi Jews in infantile and adult GM2 and Roma \"travelers\" in juvenile GM1). The majority of juvenile subjects will have severely impaired decision-making and even informed assent in older children may not be possible. Children with Morquio B disease are not expected to be cognitively impaired. The children with Morquio B ages 7-11 years will be asked to give verbal assent and ages 12-17 years will be asked to give written assent to the protocol. Some subjects who have reached the age of 18 may need to have legally authorized representative (usually their parents) sign consent on their behalf.",{"count":215,"type":20},200,"Study description:\n\nThis is a natural history study that will evaluate any patient with enzyme or DNA confirmed GM1 or GM2 gangliosidosis, sialidosis or galactosialidosis. Patients may be evaluated every 6 months for infantile onset disease, yearly for juvenile onset and approximately every two years for adult-onset disease as long as they are clinically stable to travel. Data will be evaluated serially for each patient, and cross-sectionally for patients of similar ages and genotypes. Genotype-phenotype correlations will be made where possible although these are rare disorders and the majority of the patients are compound heterozygotes.\n\nObjectives:\n\nTo study the natural history and progression of neurodegeneration in individuals with glycosphingolipid storage disorders (GSL), GM1 and GM2 gangliosidosis, and glycoprotein (GP) disorders including sialidosis and galactosialidosis using clinical evaluation of patients and patient\u002Fparent surveys.\n\nTo develop sensitive tools for monitoring disease progression.\n\nTo identify biological markers in blood, cerebrospinal fluid, and urine that correlate with disease severity and progression and can be used as outcome measures for future clinical trials.\n\nTo further understand and characterize the mechanisms of neurodegeneration in GSL and GP storage disorders across the spectrum of disease beginning with ganglioside storage in fetal life.\n\nEndpoints:\n\nExploring the natural history of Lysosomal Storage Diseases and Glycoprotein Disorders\n\nStudy Population:\n\nPatients with enzyme or DNA confirmed GM1 or GM2 gangliosidosis, sialidosis or galactosialidosis. Accrual ceiling is 200 participants. No exclusions based on age, gender, demographic group, or demographic location. Patients included in our study are those that are seen at the NIH Clinical Center, subjects that have only sent in blood samples, as well as those who complete the questionnaire or provided head circumference measures.",[218,219,220,221],"Neurological Regression","Myoclonus","Cherry Red Spot","Brain Atrophy",[223,224,225,226,65,227,228,229,230,231],"Sialidosis","Lysosomal Storage","GM1 Gangliosidosis","GM2 Gangliosidosis","Glycoprotein Disorders","Lysosomal Storage Disorder","Tay-Sachs","Sandhoff","Gaucher","2026-06-30",{"date":165,"type":37},{"date":235,"type":37},"2002-02-06",{"name":43,"class":44},{"id":238,"slug":4,"hasResults":11,"nctId":239,"briefTitle":240,"officialTitle":241,"acronym":4,"eligibilityCriteria":242,"healthyVolunteers":51,"sex":15,"minAge":95,"maxAge":17,"enrollmentInfo":243,"targetDuration":4,"studyType":56,"phases":4,"briefSummary":245,"conditions":246,"keywords":251,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":254,"lastUpdatePostDateStruct":255,"startDateStruct":256,"completionDateStruct":4,"leadSponsor":258,"locationsCount":45},"100192384","NCT01780168","The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism","The NIH Mini Study: Metabolism, INfection and Immunity in Inborn Errors of Mitochondrial Metabolism","* INCLUSION CRITERIA:\n\nIn order to be eligible to paraticipant in this study, an individual must meet all of the following criteria:\n\n1. Stated willingness to comply with all study procedures and availability for the duration of the study.\n2. Male or female, \\>12 months of age.\n3. Diagnosis of mitochondrial disease with documented molecular evidence of disease.\n4. Healthy volunteers of any gender and ethnicity \\>2 years of age may also be eligible to enroll in the protocol. Healthy volunteers may be from the local community, or family members of patients with MtD.\n5. Agreement to adhere to Lifestyle considerations throughout study duration.\n6. Ability of subject or Legally Authorized Representative (LAR) to understand and the willingness to sign a written informed consent document.\n\nEXCLUSION CRITERIA:\n\n1. Lack of a local MtD provider (For participants with MtD only)\n2. \\\u003C12 months of age\n3. Pregnancy or lactation\n4. Discretion and clinical judgement of the Principal Investigator",{"count":244,"type":20},500,"The Metabolism, Infection and Immunity (MINI) Study is a longitudinal natural history study at the National Institutes of Health (NIH) that aims to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease. Mitochondrial diseases are a group of disorders caused by problems with the cell s ability to produce energy. Infection in individuals with mitochondrial disease can lead to worsening clinical symptoms, particularly neurologic symptoms.\n\nGoals:\n\nThe main goal of our study is to understand the relationship between infection and clinical decline in patients with mitochondrial disease. Mitochondrial diseases can affect many different parts of the body, including the immune system and its ability to respond to infection. Therefore, we perform a comprehensive evaluation of participants including a detailed immunologic assessment.\n\nWe are not testing any new medicine or procedure to treat or cure IEM or mitochondrial diseases. However, by understanding the relationship between infection and mitochondrial disease, we hope to develop treatments in the future. At the NIH, we are interested in research. Although we do provide advice and care for people enrolled in our study, we are not able to take over the long-term care of participants. To enroll in our study, you (your child) must already have a confirmed diagnosis of a mitochondrial disease. We are not able to provide a \"first time\" diagnosis or regular metabolic care.\n\nWhat is involved?\n\nOnce you contact our team members, you will be asked to provide medical records to determine eligibility. Our team will review the records and notify you if you (your child is) eligible to join the study.\n\n-Onsite participation: You (your child) will be invited to visit the National Institutes of Health in Bethesda, Maryland. This first visit will typically last 3-5 days. Depending on the level of participation, additional visits may be requested. Our team members will work with you and your child to coordinate the supports needed during your stay at NIH. Study participants may be seen in the clinic, day hospital or inpatient setting.\n\nWhen you (your child) arrive at the NIH we will have an informed consent discussion to confirm willingness to participate, answer questions and review the risks and benefits of the study. You (your child) will meet with a physician who will ask about medical and family history and do a physical exam (like in any doctor's office). We will ask all study participants to allow us to collect urine, draw blood, swab your (your child s) nose, and perform a detailed assessment. We may suggest additional evaluations or specialty consults for some participants based on clinical manifestations, age and level of independence. We will explain these studies to you (your child). They may include items such as- imaging studies, DEXA or MRI scan, energy expenditure or metabolic testing, developmental neuropsychological logical testing, physiatry, ophthalmology, or other consults. In some cases, we may request a skin biopsy (if one has not been done). You will receive the results of your (your child's) clinical testing and notes from any clinical consultations.\n\n-Remote participation: If you (your child) are unable to travel, you (your child) may be enrolled remotely for records review, questionnaires, and telethealth exams. Blood or other samples collection may be requested in coordination with local providers or lab testing companies...",[247,248,249,250],"Oxidative Phosphorylation Deficiencies","Electron Transport Chain Disorders, Mitochondrial","Mitochondrial Disorders","Leigh Disease",[249,250,252,253,65],"Subacute Necrotizing Encephalopathy","Disorders of Oxidative Phosphorylation (OXPHOS)","2026-06-27",{"date":232,"type":37},{"date":257,"type":37},"2012-12-31",{"name":43,"class":44},{"id":260,"slug":4,"hasResults":11,"nctId":261,"briefTitle":262,"officialTitle":262,"acronym":4,"eligibilityCriteria":263,"healthyVolunteers":11,"sex":15,"minAge":264,"maxAge":17,"enrollmentInfo":265,"targetDuration":4,"studyType":56,"phases":4,"briefSummary":267,"conditions":268,"keywords":270,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":254,"lastUpdatePostDateStruct":274,"startDateStruct":275,"completionDateStruct":4,"leadSponsor":277,"locationsCount":45},"100084645","NCT00359684","Use of Cysteamine in the Treatment of Cystinosis","* INCLUSION CRITERIA:\n\nDiagnosis of cystinosis, whether classical or one of the variants with later onset or no renal complications.\n\nPatients will be diagnosed as having cystinosis based upon a leucocyte cystine content greater than 1 nmol half-cystine\u002Fmg protein (normal, less than 0.2) and a typical clinical course.\n\nEXCLUSION CRITERIA:\n\nInability to travel to the NIH.\n\nAge less than one week.\n\nNonviable neonates and neonates of uncertain viability will be excluded.","1 Week",{"count":266,"type":20},330,"Cystinosis is an inherited disease resulting in poor growth and kidney failure. There is no known cure for cystinosis, although kidney transplantation may help the renal failure and prolong survival. Both the kidney damage and growth failure are thought to be due to the accumulation of the amino acid cystine within the cells of the body. The cystine storage later damages other organs besides the kidneys, including the thyroid gland, pancreas, eyes, and muscle.\n\nThe drug cysteamine (Cystagon; ProCysBi) is an oral medication given to patients with cystinosis prior to kidney transplantation. The drug works by reducing the level of cystine in the white blood cells and muscle tissue. The drug may also decrease levels of cystine in the kidneys and other tissues.\n\nThis study has several goals:\n\n1. Long-term surveillance of cysteamine treated patients.\n2. Detection of new non-kidney complications of cystinosis.\n3. Maintenance of a patient population for genetic testing (mutational analysis) of the cystinosis gene.\\\u003CTAB\\>",[269],"Cystinosis",[269,271,272,273,126,65],"Cystine","Lysomal Storage Disease","Mutation Analysis",{"date":232,"type":37},{"date":276,"type":37},"1979-01-04",{"name":43,"class":44},{"id":279,"slug":4,"hasResults":11,"nctId":280,"briefTitle":281,"officialTitle":282,"acronym":4,"eligibilityCriteria":283,"healthyVolunteers":51,"sex":15,"minAge":121,"maxAge":17,"enrollmentInfo":284,"targetDuration":4,"studyType":56,"phases":4,"briefSummary":286,"conditions":287,"keywords":289,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":254,"lastUpdatePostDateStruct":294,"startDateStruct":295,"completionDateStruct":4,"leadSponsor":297,"locationsCount":298},"100063681","NCT00078078","Clinical and Laboratory Study of Methylmalonic Acidemia","Clinical and Basic Investigations of Methylmalonic Acidemia (MMA) and Related Disorders","* INCLUSION CRITERIA:\n\nPatients of any sex, ethnicity, and over 1 month of age with biochemical or genetic diagnosis of methylmalonic acidemia or cobalamin disorders are eligible to enroll in this protocol. The primary reason for expanding enrollment to young children is because individuals with cobalamin C deficiency (cblC) develop a maculopathy often in utero or early infancy yet the natural history of the disease progression in these early years has not been well defined. Our colleagues at the National Eye Institute have documented the retinal findings in the largest cohort of individuals with cblC and have developed an expertise in this disorder. A recent report suggests that early treatment may significantly improve the retinal disease and will be the focus of a future clinical trial at the NIH Clinical Center requiring a need for more natural history data from birth to early childhood. Children ages 1 month to 2 years or under 12 kg will be reviewed by the Pediatric Consult Service prior to scheduling and if approved will be evaluated in the outpatient clinic for limited evaluations blood draw, eye exam, consults. Affected infants that are not approved by the Pediatric Consult Service or are not stable enough to travel may enroll remotely by telemedicine to include in natural history data collection, such as medical history and laboratory result sharing and interpretation, molecular genetic testing, genetic counseling, nutrition consult with dietary food log analysis, neurocognitive assessments. Affected individuals of any of the other disorders under study, younger than 2 years may be evaluated at Children s National Medical Center (CNMC) as part of an evolving agreement in the Translational Program in Pediatrics, if they are deemed eligible for participation by the NIH team and the CNMC team. Patients will be diagnosed based on a determination of MMA and homocysteine levels in plasma and urine. Most will have their complementation class known or pending. Molecular genetic analyses to determine mutations will be expected to have been performed prior to acceptance into the study. Some patients who have not yet had these laboratory tests will be admitted to the protocol based upon metabolic parameters and clinical history. This latter category of patients might include individuals with a suspected genetic but unknown type of MMA.\n\nEXCLUSION CRITERIA:\n\nThe PI\u002FAI may decline to enroll a patient for reasons such as being medically unstable, residing in a hospital, sub-optimal metabolic control or for any concerns arising after review of the laboratory and clinical data; any patient who requires dialysis once or more\u002Fweek and weighs \\\u003C40 kg; any patient who is being treated for an intercurrent infection with antibiotics or has evidence of an acute infection and has metabolic symptoms; any patient who does not have a regular\u002Flocal metabolic, genetic or endocrine physician and\u002For a family physician, pediatrician, or internist; any patient who may be metabolically unstable but not acutely ill; and any patient or family who may not be able to institute recommendations for appropriate testing and care before visiting the NIH. Each family may be contacted by the NIH team prior to a pending admission to confirm that the patient is metabolically stable and ready to visit the NIH in a state of relative health, with an adequate supply of special formulas, medications, supplements, and if needed, medical equipment such as feeding pumps and replacement parts for feeding tubes. A subset of participants will be enrolled in the tissue collection part of the study only (i.e. if they are too sick to travel).\n\nPregnant women may be eligible to enroll in the study if they are affected with methylmalonic acidemia or a cobalamin disorder or are family members of an affected subject. Pregnant women are not excluded because it is important to learn more about the effects of these disorders in pregnant participants and the fetus. This research involves no more than minimal risk to the fetus. Affected subjects who are pregnant or become pregnant during their participation on the study will not be withdrawn, but will be excluded from some procedures until the pregnancy is concluded. Affected subjects who are pregnant may undergo procedures as part of their clinical care, including blood draws, genetic studies, and consultations, according to the clinical judgement of the clinical team. Pregnant participants will be excluded from some procedures such as stable isotope, GFR testing, and MRI until the pregnancy is concluded.\n\nPatients with methylmalonic acidemia or cobalamin disorders of any age, sex and ethnicity, undergoing a transplantation surgery at UPMC Children s Hospital of Pittsburgh, are eligible to participate in the tissue collection arm of the study. Pregnant women will be excluded from tissue collection at the UPMC Children s Hospital of Pittsburgh.\n\nFor the healthy volunteers, eligibility criteria include individuals that are age 18 and over.\n\nExclusion criteria include: women who are pregnant, individuals being treated with antibiotics, individuals with kidney or liver disease, individuals on a special diet such as a high protein diet or taking protein supplements and individuals with severe claustrophobia or other anxiety disorders.",{"count":285,"type":20},2275,"Methylmalonic acidemia (MMA), one of the most common inborn errors of organic acid metabolism, is heterogeneous in etiology and clinical manifestations. Affected patients with cblA, cblB and mut classes of MMA are medically fragile and can suffer from complications such as metabolic stroke or infarction of the basal ganglia, pancreatitis, end stage renal failure, growth impairment, osteoporosis, and developmental delay. The frequency of these complications and their precipitants remain undefined. Furthermore, current treatment protocol outcomes have continued to demonstrate substantial morbidity and mortality in the patient population. Increasingly, solid organ transplantation (liver, and\u002For kidney) has been used to treat patients. Disordered transport and intracellular metabolism of vitamin B12 produces a distinct group of disorders that feature methylmalonic acidemia as well as (hyper)homocysteinemia. These conditions are named after the corresponding cellular complementation class - (cblC, cblD, cblF, cblJ and cblX) - and are also heterogenous, clinically and biochemically. The genetic disorders underlying cblE and cblG feature an isolated impairment of the activity of methionine synthase, a critical enzyme involved in the conversion of homocysteine to methionine and these disorders feature (hyper)homocysteinemia. Lastly, a group of patients can have increased methylmalonic acid and\u002For homocysteine in the blood or urine caused by variant(s) in recently identified (ACSF3) and unknown genes.\n\nIn this protocol, we will clinically evaluate patients with methylmalonic acidemia and cobalamin metabolic defects. Routine inpatient admissions will last up to 4-5 days and involve urine collection, blood drawing, ophthalmological examination, radiological procedures, MRI\u002FMRS, skin biopsies in some, and developmental testing. In a subset of patients who have or will receive renal, hepato- or hepato-renal transplants or have an unusual variant or clinical course and have MMA, a lumbar puncture to examine CSF metabolites will be performed. In this small group of patients, CSF metabolite monitoring may be used to adjust therapy.\n\nThe study objectives will be to further delineate the spectrum of phenotypes and characterize the natural history of these enzymopathies, query for genotype\u002Fenzymatic\u002Fphenotype correlations, search for new genetic causes of methylmalonic acidemia and\u002For homocysteinemia, identify new disease biomarkers and define clinical outcome parameters for future clinical trials.\n\nThe population will consist of participants previously evaluated at NIH, physician referrals, and families directed to the study from clinicaltrials.gov as well as the Organic Acidemia Association, Homocystinuria Network America and other national and international support groups. Most participants will be evaluated only at the NIH Clinical Center. However, if the NIH team decides that a patient under the age of 2 years is a candidate subject for this research protocol, that patient may enroll at the Children's National Medical Center (CNMC) site, pending approval by Dr Chapman, the Principal Investigator of the CNMC location Individuals may also enroll in the tissue collection only part of the study at the UPMC Children's Hospital of Pittsburgh or share medical history and clinical data via telemedicine visits remotely. Outcome measures will largely be descriptive and encompass correlations between clinical, biochemical and molecular parameters....",[128,288,130],"Methylmalonic Acidemia",[128,290,291,288,292,65,293,126],"Cobalamin","Vitamin B12","Hyperhomocysteinemia","MMA",{"date":232,"type":37},{"date":296,"type":37},"2004-06-07",{"name":43,"class":44},3,{"id":300,"slug":4,"hasResults":11,"nctId":301,"briefTitle":302,"officialTitle":302,"acronym":4,"eligibilityCriteria":303,"healthyVolunteers":11,"sex":15,"minAge":121,"maxAge":17,"enrollmentInfo":304,"targetDuration":4,"studyType":56,"phases":4,"briefSummary":306,"conditions":307,"keywords":309,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":254,"lastUpdatePostDateStruct":314,"startDateStruct":315,"completionDateStruct":4,"leadSponsor":317,"locationsCount":45},"100054488","NCT00001456","Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome","* INCLUSION CRITERIA\n\nPersons with HPS or family members who are their caregivers aged 1-80 years are eligible to enroll in this protocol. The diagnosis of HPS is based upon a paucity or deficiency of platelet dense bodies on whole mount electron microscopy or the identification of pathogenic variants in HPS genes by genetic testing. Some persons who have not been diagnosed with HPS may be admitted to the protocol based upon the presence of albinism and a platelet storage pool deficiency.\n\nSubjects participating only in the HPS Symptom Questionnaire will be at least 18 years of age.\n\nEXCLUSION CRITERIA\n\nPregnant women and adults who are unable to provide consent are excluded.",{"count":305,"type":20},600,"Hermansky-Pudlak Syndrome (HPS) is an inherited disease which results in decreased pigmentation (oculocutaneous albinism), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosomal accumulation of ceroid lipofuscin).\n\nThe disease can cause poor functioning of the lungs, intestine, kidneys, or heart. The major complication of the disease is pulmonary fibrosis and typically causes death in patients ages 40 - 50 years old. The disorder is common in Puerto Rico, where many of the clinical research studies on the disease have been conducted. Neither the full extent of the disease nor the basic cause of the disease is known. There is no known treatment for HPS.\n\nThe purpose of this study is to perform research into the medical complications of HPS and begin to understand what causes these complications. Researchers will clinically evaluate patients with HPS of all ethnic backgrounds. They will obtain cells, blood components (plasma), and urine for future studies. Genetic tests (mutation analysis) to detect HPS-causing genes will also be conducted.\\\u003CTAB\\>",[308],"Hermansky-Pudlak Syndrome (HPS)",[310,311,126,312,313,65],"Albinism","Platelet Storage Pool Deficiency","Pulmonary Fibrosis","Inflammatory Bowel Disease",{"date":232,"type":37},{"date":316,"type":37},"1995-11-06",{"name":43,"class":44},{"id":319,"slug":4,"hasResults":11,"nctId":320,"briefTitle":321,"officialTitle":322,"acronym":4,"eligibilityCriteria":323,"healthyVolunteers":51,"sex":15,"minAge":324,"maxAge":17,"enrollmentInfo":325,"targetDuration":4,"studyType":56,"phases":4,"briefSummary":327,"conditions":328,"keywords":336,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":254,"lastUpdatePostDateStruct":344,"startDateStruct":345,"completionDateStruct":4,"leadSponsor":347,"locationsCount":348},"100054419","NCT00001373","Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics","An Exploratory Study of the Genetics, Pathophysiology, and Natural History of Autoinflammatory Diseases","* INCLUSION CRITERIA:\n\nThere are three populations that will be included in this study: subjects with known or suspected autoinflammatory diseases, family members of subjects with known or suspected autoinflammatory diseases, and healthy controls. Persons interested in participation may be given a screening questionnaire to determine eligibility. Questions in the screening questionnaire are important to help us determine if subjects have known autoinflammatory diseases, or if there is a high clinical suspicion of autoinflammatory disease.\n\nIn order to be eligible to participate in this study as a subject with known or suspected autoinflammatory disease, an individual must meet all of the following criteria:\n\n1. Stated willingness to participate in study procedures (which at the very least includes providing a mail-in sample for genetic analysis);\n2. Regardless of gender, at least one month of age;\n3. A medical history that, in the expert opinion of the study team, is consistent with the possibility of autoinflammatory disease; and\n4. Ability of the subject, parents (in the case of children), or Legally Authorized Representative to understand and the willingness to sign a written informed consent document.\n\nIn order to be eligible to participate in this study as a family member of a subject with known or suspected autoinflammatory disease, an individual must meet all of the following criteria:\n\n1. Stated willingness to participate in study procedures (which at the very least includes providing a mail-in sample for genetic analysis);\n2. Regardless of gender, at least one month of age;\n3. Relationship, either by blood or marriage, to an individual enrolled or about to be enrolled in the study with known or suspected autoinflammatory disease;\n4. Likelihood, in the expert opinion of the study team, that analysis of a sample from the individual would advance genetic or functional analysis of the affected relative's possible autoinflammatory condition; and\n5. Ability of the subject, parents (in the case of children), or Legally Authorized Representative to understand and the willingness to sign a written informed consent document.\n\nIn order to be eligible to participate in this study as a healthy volunteer, an individual must meet all of the following criteria:\n\n1. Stated willingness to participate in study procedures for healthy volunteers;\n2. Regardless of gender, at least one year old, and not pregnant (by history of a missed menstrual period);\n3. Likelihood, in the expert opinion of the study team, that a sample from the individual would advance the functional analysis of an autoinflammatory condition under study; and\n4. Ability of the subject or parents (in the case of children) to understand and the willingness to sign a written informed consent document.\n\nEXCLUSION CRITERIA:\n\nFor any of the three categories of subjects, an individual will be excluded from participation in this study if he or she has a medical condition that would, in the opinion of the investigators, confuse the interpretation of the study.","2 Months",{"count":326,"type":20},5000,"This study is designed to explore the genetics and pathophysiology of diseases presenting with intermittent fever, including familial Mediterranean fever, TRAPS, hyper-IgD syndrome, and related diseases.\n\nThe following individuals may be eligible for this natural history study: 1) patients with known or suspected familial Mediterranean fever, TRAPS, hyper-IgD syndrome or related disorders; 2) relatives of these patients; 3) healthy, normal volunteers 7 years of age or older.\n\nPatients will undergo a medical and family history, physical examination, blood and urine tests. Additional tests and procedures may include the following:\n\n1. X-rays\n2. Consultations with specialists\n3. DNA sample collection (blood or saliva sample) for genetic studies. These might include studies of specific genes, or more complete sequencing of the genome.\n4. Additional blood samples a maximum of 1 pint (450 ml) during a 6-week period for studies of white cell adhesion (stickiness)\n5. Leukapheresis for collecting larger amounts of white cells for study. For this procedure, whole blood is collected through a needle in an arm vein. The blood flows through a machine that separates it into its components. The white cells are removed and the rest of the blood is returned to the body through another needle in the other arm.\n\nPatients may be followed approximately every 6 months to monitor symptoms, adjust medicine dosages, and undergo routine blood and urine tests. They will receive genetic counseling by the study team on the risk of having affected children and be advised of treatment options.\n\nParticipating relatives will undergo a medical and family history, possibly with a review of medical records, physical examination, blood and urine tests. Additional procedures may include a 24-hour urine collection, X-rays, and consultations with medical specialists. A DNA sample (blood or saliva) will also be collected for genetic studies. Additional blood samples of no more than 550 mL during an 8-week period may be requested for studies of white cell adhesion (stickiness).\n\nRelatives who have familial Mediterranean fever, TRAPS, or hyper-IgD syndrome will receive the same follow-up and counseling as described for patients above.\n\nNormal volunteers and patients with gout will have a brief health interview and check of vital signs (blood pressure and pulse) and will provide a blood sample (up to 90 ml, or 6 tablespoons). Additional blood samples of no more than 1 pint over a 6-week period may be requested in the future....",[329,330,331,332,333,334,335],"Familial Mediterranean Fever (FMF)","Autoinflammation","Periodic Fever","Fever","Genetic Diseases","ROSAH","ALPK1",[337,338,331,339,340,104,341,330,342,343],"Splenomegaly","Retinal Dystrophy","Optic Nerve Edema","HEADACHE","Familial Mediterranean","Anhidrosis","Alpha-Kinase 1",{"date":232,"type":37},{"date":346,"type":37},"1994-03-10",{"name":43,"class":44},5,{"id":350,"slug":4,"hasResults":11,"nctId":351,"briefTitle":352,"officialTitle":353,"acronym":4,"eligibilityCriteria":354,"healthyVolunteers":51,"sex":15,"minAge":16,"maxAge":96,"enrollmentInfo":355,"targetDuration":4,"studyType":56,"phases":4,"briefSummary":357,"conditions":358,"keywords":363,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":366,"lastUpdatePostDateStruct":367,"startDateStruct":369,"completionDateStruct":371,"leadSponsor":373,"locationsCount":45},"100439876","NCT05007990","Caregiving Networks Across Disease Context and the Life Course","Caregiving Networks Across Disease Context and the Life Course: A Comparative Longitudinal Study","* INCLUSION CRITERIA:\n\nTo be eligible to participate in this study, an individual must meet all of the following criteria:\n\n* Adults aged 18 years and older\n* If the Care Recipient is living, they must self-identify as a primary caregiver to the Care Recipient (individual with a chronic medical condition), OR if the Care Recipient is deceased, they must self-identify as having been a primary caregiver to the now-deceased Care Recipient, OR they must otherwise be identified (i.e., referred) by a participant as a part of the caregiving network\n* Ability to consent to research\n* Fluency in English will be needed to complete interview as well as to read, comprehend surveys and consent forms, as appropriate validated measures in other languages are not readily available.\n* Physically capable of participating in applicable assessments\n\nEXCLUSION CRITERIA:\n\nAn individual who meets any of the following criteria will be excluded from this study:\n\n* Care Recipients (as defined in this protocol)\n* Staff of NHGRI\n\nStaff of NHGRI are unable to participate in this study as a safeguard against the risk of ethical concerns. As per OHSRP SOP 404, NIH staff may be a vulnerable class of study subjects. Excluding staff of the Institute conducting the study assures there will not be any perceived or actual conflict of interest, pressure\u002Fcoercion to participate among co-workers, subordinates, work unit-members, etc. As further noted in OHSRP SOP 404, exclusion further protects this class of subjects privacy and confidentiality; and protects the study s scientific integrity.\n\nPersons with impaired neuro-sensory or decision-making ability (adults unable to provide consent) will not be enrolled in the study. Persons with impaired neuro-sensory or decision making ability would not be able to participate with independent responses to the various social behavioral measures we use in the study interview and survey. Learning information about these individuals through other people instead of themselves would introduce bias to this study.",{"count":356,"type":20},2800,"Background:\n\nIn the U.S., about 53 million informal, unpaid caregivers provide care to a person who is ill, is disabled, or has age-related loss of function. These caregivers may be adult children, spouses, parents, or others. The stress of providing long-term care affects caregivers health and well-being. Researchers want to learn more about this stress and its effects.\n\nObjective:\n\nTo learn how the caregiving process affects the health and well-being of caregivers over time.\n\nEligibility:\n\nAdults aged 18 years and older who are caregivers for a person with a chronic medical condition and who have already given consent to take part in other study activities.\n\nDesign:\n\nParticipants will be put in different groups. They will complete some or all of the following tasks over 1 year. They may repeat these tasks once a year for up to 5 years.\n\nParticipants will fill out 2 online surveys. One will ask about their health and their caregiving experience. The other will ask them to list people in their social network and their care recipient s social network who give them support.\n\nParticipants will have a 2-part phone interview. It will be audio recorded. In part 1, they will be asked about the people they listed in the survey. In part 2, they will be asked about their caregiving experience and events in the care recipient s life.\n\nParticipants may fill out a weeklong diary every 3 months. It will ask about their daily social activities, well-being, and stress levels. It will also ask about their thoughts and feelings about caregiving.\n\nParticipants may give a blood sample each year they are in the study.\n\n...",[359,101,360,361,362],"Inherited Metabolic Disorders","Batten's Disease","Tay Sachs","Diabetes",[364,102,65,59,365],"Social Support","Family Network","2026-06-25",{"date":368,"type":37},"2026-06-26",{"date":370,"type":37},"2022-09-08",{"date":372,"type":20},"2030-12-31",{"name":43,"class":44},{"id":375,"slug":4,"hasResults":11,"nctId":376,"briefTitle":377,"officialTitle":378,"acronym":4,"eligibilityCriteria":379,"healthyVolunteers":51,"sex":15,"minAge":52,"maxAge":96,"enrollmentInfo":380,"targetDuration":4,"studyType":56,"phases":4,"briefSummary":382,"conditions":383,"keywords":386,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":391,"lastUpdatePostDateStruct":392,"startDateStruct":393,"completionDateStruct":395,"leadSponsor":397,"locationsCount":45},"100351322","NCT03854318","Longitudinal Studies of Patient With FPDMM","Longitudinal Studies of Patients and Families With Familial Platelet Disorders With Associated Myeloid Malignancy (FPDMM) Caused by RUNX1 Germline Variants or FPDMM-Like Conditions","* INCLUSION CRITIERIA:\n\nPatients enrolled in this protocol will have been referred with a known or suspected variant in the RUNX1 gene. Patients with suspected RUNX1 variants are those with clinical features of FPD but who have not been tested for RUNX1, or who were negative on standard testing. The Principal Investigator, along with consulting specialists, will review the medical records of prospective patients and offer enrollment based upon the potential to help the individual, to learn from the patient, or to initiate clinical or basic research suggested by the patient's workup. Persons interested in participation may be given a screening questionnaire to determine eligibility. The questions about hematologic manifestations in the screening questionnaire are important to help us determine if RUNX1 variants are likely to be pathogenic, or if there is a high clinical suspicion of RUNX1 (abnormal platelets, bleeding, bruising, leukemia etc.). Unaffected family members may be asked to enroll in the study to provide specimens (saliva, blood, skin) for genetic testing, next-generation sequencing, and other related studies. Enrolled subjects can be any sex and any age. There are no upper or lower age restrictions on this study.\n\nEXCLUSION CRITIERIA:\n\nThere are no exclusionary criteria.",{"count":381,"type":20},1000,"Background:\n\nGenes tell the body and its cells how to work. Familial platelet disease (FPD) or FPD with associated malignancies (FPDMM) is caused by a variant in the gene RUNX1. People with this disease may have problems with their blood and bleed for a long time when they are injured. Researchers want to learn more about RUNX1 variants and FPD.\n\nObjective:\n\nTo learn more about FPD in people with RUNX1 variants to lead to better diagnosis, monitoring, and treatment.\n\nEligibility:\n\nPeople any age with a suspected or confirmed RUNX1 variant\n\nPeople who have a family member with the variant\n\nDesign:\n\nAll participants will be screened with a phone call and a blood, saliva, or cheek cell sample.\n\nParticipants with a suspected or confirmed variant will have 1 visit. It will last about 2 days. They will then have visits at least once a year.\n\nVisits will include:\n\n* Medical history and physical exam\n* Blood tests or saliva sample\n* Possible skin biopsy: A small piece of the participant s skin will be removed.\n* Bone marrow aspiration or biopsy: The participant s bone marrow will be removed by needle from a large bone such as the hip bone.\n* Possible apheresis: Blood will be removed from the body and certain blood cells will be taken out. The rest of the blood is returned to the body.\n\nBetween visits, participants with a suspected or confirmed variant will keep a diary of disease symptoms and signs.\n\nSamples from all participants may be used for genetic testing",[384,102,385],"Inherited Hematological Diseases","FPDMM",[387,102,388,389,390,65],"inherited hematological diseases","Hematological Malignancies","Cancer","Acute Myeloid Leukemia","2026-06-24",{"date":366,"type":37},{"date":394,"type":37},"2019-03-28",{"date":396,"type":20},"2028-12-31",{"name":43,"class":44},{"id":399,"slug":4,"hasResults":11,"nctId":400,"briefTitle":401,"officialTitle":402,"acronym":4,"eligibilityCriteria":403,"healthyVolunteers":51,"sex":15,"minAge":95,"maxAge":96,"enrollmentInfo":404,"targetDuration":4,"studyType":56,"phases":4,"briefSummary":406,"conditions":407,"keywords":410,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":417,"lastUpdatePostDateStruct":418,"startDateStruct":419,"completionDateStruct":4,"leadSponsor":421,"locationsCount":45},"100103147","NCT00605878","Studies of Skin Microbes in Healthy People and in People With Skin Conditions","Studies of Skin Microflora in Healthy Individuals and Atopic Dermatitis Patients","* INCLUSION CRITERIA:\n\nInclusion Criteria for all groups\n\nMust have a primary care professional who will continue standard of care\u002Fevaluation in tandem with the protocol to whom information and recommendations can be communicated.\n\nInclusion Criteria for Group 1: Healthy Volunteers\n\nAdult males or females aged 18-50 at time of enrollment.\n\nInclusion Criteria for Group 2: AD patients\n\nA. Confirmed diagnosis of AD (UK Working Party s Diagnostic Criteria)24\n\nB. Moderate to severe AD SCORAD greater than or equal to 25(25)\n\nC. Greater than or equal to 1 affected antecubital (or popliteal) fossae at time of enrollment to serve as a target site.\n\nInclusion Criteria for Group 3: Healthy (pediatric) Controls\n\nA. Males or females 2-18 years of age.\n\nInclusion Criteria for Groups 4, 5, \\& 6: AD\u002FHIES\u002FWAS\u002FDOCK8 patients\n\nA. Must have mutation-proven diagnosis, with or without eczematous dermatitis.\n\nEXCLUSION CRITERIA:\n\nExclusion Criteria for all groups:\n\n1. Any subjects receiving or planning to receive an IND agent, ultraviolet light therapy, monoclonal antibodies, or systemic immunosuppressants \\\u003C 7 days or 5 half-lives (whichever is the longer time period) of initiating this protocol.\n2. Any subjects who have cancer, and are currently or have previously received treatment with chemotherapy or radiation for treatment of malignancies within the previous 6 months.\n3. Any subject with a history of bone marrow transplant or gene therapy.\n\nExclusion Criteria specific for Group 2: AD patients\n\nA. Unable to remain off systemic (oral) antibiotics or systemic (oral) steroids for at least 7 days prior to body site sampling. Unable to temporarily discontinue use of topical steroids or calcineurin inhibitors for greater than or equal to 7 days to small areas of skin intended for sampling. (Topical therapies\u002Femollients for AD may be continued to non-adjacent, nontarget sites.)\n\nB. Underlying immunodeficiency, either as primary disease or secondary to treatment.\n\nExclusion Criteria specific for Groups 4, 5, \\& 6: HIES\u002FWAS\u002FDOCK8 patients:\n\nA. Unable to remain off topical steroids and emollients for preferably 7 days but at least 24 hours prior to body site sampling.\n\nExclusion Criteria specific for Groups 1 \\& 3: Healthy Volunteers and Healthy (pediatric) Controls:\n\nA. Any subjects with unstable or uncontrolled or chronic medical conditions requiring treatment or hospitalization. Individual determinations will be made at the discretion of the medical investigator.\n\nB. Underlying immunodeficiency, either as primary disease or secondary to treatment.\n\nC. Other documented chronic dermatologic disease, such as AD or psoriasis that may interfere with evaluation of the cutaneous microbiome. Common transient conditions, such as acne, are permissible.\n\nD. Subjects who provide direct healthcare or reside in healthcare facilities or in non-hospital settings such as assisted living facilities, homeless shelters, jails and prisons as well as subjects with frequent exposure to laboratory animals.\n\nE. Subjects with asthma.\n\n5\\. Any female with symptoms and\u002For serum hormone levels consistent with perimenopause",{"count":405,"type":20},530,"This study will examine microbes (e.g., bacteria, fungi, viruses) that live on human skin and how microbes contribute to health and disease. It will analyze healthy human skin and how the these microorganisms might change in patients with atopic dermatitis (AD), a skin condition also known as eczema.\n\nHealthy volunteers, as well as patients with moderate to severe eczema (AD), between 2 and 40 years of age may be eligible for this study.\n\nWe also wish to enroll children and adults aged 2-40 who have been diagnosed with inherited immune disorders known as HIES (hyperimmunoglobulin-E syndrome), WAS (Wiskott-Aldrich syndrome), or DOCK8 immunodeficiency because they frequently have skin problems similar to AD.\n\nEligible participants undergo the following tests and procedures:\n\n* Medical family and medication history\n* Skin examination\n* Blood tests (research blood as well as serum IgE, and complete blood count)\n* Skin samples to analyze microbes. Samples are obtained by the following methods: swabbing the skin with a cotton swab; scraping (scratching) the skin gently with a blade to remove only the outermost skin layers; and, only in adults, biopsy (surgical removal) of a small skin sample less than 1\u002F4-inch (5 mm) in diameter.\n* Nose swabs to analyze microbes.\n* Patients with eczema may have photographs of their skin taken to help monitor the skin rashes.\n\nParticipants may be contacted periodically for follow-up studies. Patients with atopic dermatitis may have additional skin samples collected to examine changes in the skin bacteria over time and during all of the stages of eczema. In addition, patients who have a flare of their eczema are asked to undergo a skin sample collection as soon as possible.",[408,409],"Eczema","Atopic Dermatitis",[411,65,412,413,414,409,408,415,416],"Skin","Microbiome","Bacteria","Atopic Dermatitis (Eczema)","Health Volunteer","HG","2026-06-23",{"date":391,"type":37},{"date":420,"type":37},"2008-01-22",{"name":43,"class":44},{"id":423,"slug":4,"hasResults":11,"nctId":424,"briefTitle":425,"officialTitle":426,"acronym":4,"eligibilityCriteria":427,"healthyVolunteers":11,"sex":15,"minAge":95,"maxAge":17,"enrollmentInfo":428,"targetDuration":4,"studyType":56,"phases":4,"briefSummary":429,"conditions":430,"keywords":432,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":417,"lastUpdatePostDateStruct":438,"startDateStruct":439,"completionDateStruct":4,"leadSponsor":441,"locationsCount":45},"100058190","NCT00005909","Study of Alkaptonuria","Clinical, Biochemical, and Molecular Investigations Into Alkaptonuria","* INCLUSION CRITERIA:\n\nAll patients entering this study will carry the diagnosis of alkaptonuria, although we will confirm this diagnosis during the admission. Alkaptonuria has been reported to occur throughout the world, with concentrations in the Dominican Republic, Slovakia, and Germany. We plan to recruit patients of all ethnic backgrounds.\n\nEXCLUSION CRITERIA:\n\nPatients will be excluded if they cannot travel to the NIH due to their medical condition or are in imminent danger of death due to, e.g., cardiac involvement. Children under two years of age are excluded because they are virtually never affected with the symptoms of this disorder, and their investigations can be delayed.",{"count":77,"type":20},"The purpose of this study is to gain a better understanding of alkaptonuria and collect medical data on patients who may later participate in new drug trials for this rare genetic disease. In alkaptonuria, a pigment called homogentisic acid collects in bone and connective tissue, causing arthritis and eventually bone fractures, and also causes discoloration in the ears and whites of the eyes. Some patients also develop kidney stones and heart valve problems. Alkaptonuria has not been studied for decades; and scientists expect to gain comprehensive clinical information using current medical techniques.\n\nPatients with alkaptonuria who are at least two years of age may be eligible for this study. Participants will be evaluated at NIH s Clinical Center for 3 to 5 days every 2 to 3 years. They will have a medical history, physical examination, routine blood and urine tests. Blood may also be collected to measure a type of collagen that indicates new bone formation and to analyze DNA for genetic studies. 24-hour urine collections will be done to measure organic acids and homogentisic acid excretion, assess overall kidney function, and evaluate bone metabolism. A total of 89.5 ml (about 6 tablespoons) of blood will be drawn for these studies in adults and 51 ml (about 3 tablespoons) in children.\n\nPatients will (may) also have bone X-rays, kidney ultrasound, brain and chest computerized tomography (CT) scans, magnetic resonance imaging (MRI) scans of affected joints, electrocardiograms, echocardiogram, lung function tests, and a hearing test. Photographs of the face and full body (with underwear on) will be taken.\n\nAs medically indicated, patients will also have consultations with dentistry and ophthalmology, with physical therapy and rehabilitation medicine for arthritis management, and with cardiology for heart valve evaluation. When appropriate, patients may also have dermatology, pulmonology and neurology consultations.\n\nThe information from this study will enable doctors to better advise patients with alkaptonuria about their disease and treatment options. It will also prepare the way for clinical studies of a new drug that blocks production of homogentisic acid.",[431],"Alkaptonuria",[433,434,435,436,437,65,431],"Homogentisic Acid","Ochronosis","Inborn Error of Metabolism","Arthritis","Enzyme Defect",{"date":391,"type":37},{"date":440,"type":37},"2000-06-21",{"name":43,"class":44},{"id":443,"slug":4,"hasResults":11,"nctId":139,"briefTitle":140,"officialTitle":141,"acronym":4,"eligibilityCriteria":142,"healthyVolunteers":11,"sex":15,"minAge":121,"maxAge":143,"enrollmentInfo":444,"targetDuration":4,"studyType":56,"phases":4,"briefSummary":445,"conditions":446,"keywords":447,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":417,"lastUpdatePostDateStruct":448,"startDateStruct":449,"completionDateStruct":4,"leadSponsor":450,"locationsCount":45},"100054444",{"count":145,"type":20},"This study will examine rare congenital disorders that involve malformations and abnormal growth. It will focus on patients with Proteus syndrome, whose physical features are characterized by overgrowth, benign tumors of fatty tissue or blood vessels, asymmetric arms or legs, and large feet with very thick soles. The study will explore the genetic and biochemical cause and course of the disease, the changes in symptoms over time, and the effects of the disease on patients.\n\nPatients with Proteus syndrome may be eligible for this study. Study candidates will have a medical history and physical examination, including X-rays and possibly other imaging tests, such as computerized tomography (CT), magnetic resonance imaging (MRI) and ultrasound. Other tests and examinations may be done if needed.\n\nThose enrolled in the study may be interviewed or complete questionnaires, or both, about how their disease affects them. Patients will provide a small blood sample for research.",[148,149],[151,152,153,154,155,65],{"date":391,"type":37},{"date":158,"type":37},{"name":43,"class":44},{"id":452,"slug":4,"hasResults":11,"nctId":453,"briefTitle":454,"officialTitle":454,"acronym":4,"eligibilityCriteria":455,"healthyVolunteers":11,"sex":15,"minAge":121,"maxAge":456,"enrollmentInfo":457,"targetDuration":4,"studyType":56,"phases":4,"briefSummary":458,"conditions":459,"keywords":462,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":467,"lastUpdatePostDateStruct":468,"startDateStruct":470,"completionDateStruct":472,"leadSponsor":473,"locationsCount":45},"100254821","NCT02595957","Genomic Services Research Program","* ELIGIBILITY CRITERIA:\n\nWe employ a referral form through SurveyMonkey to receive referrals from recruitment partners or self-referrals. This serves as an intake form and self-reported eligibility review. This form asks for contact information, key information about the prospective participant s SF,\n\nand subjective understanding of their result.\n\nIf we conclude, based on a review of the SF and available personal and\u002For family history, that the pathogenicity of the SF is not at least likely pathogenic, that participant may be eligible for the survey, interview, and\u002For re-contact for future follow-up, but will not complete any other protocol procedures (such as cascade testing). If a participant is consented and information arises during the social and behavioral study procedures that lead study staff to believe the genetic result does not qualify as an SF, the participant will be\n\nconsidered a screen failure and will not continue with study procedures.\n\nWe plan to offer enrollment in this protocol to English- or Spanish-speaking recipients of SF. We do not have trained staff who can conduct the interviews in languages other than English and Spanish.\n\nIf a caregiver of a minor or adult who is unable to consent is enrolled as an index participant to complete the survey and interview on behalf of the SF recipient, they may also be eligible for cascade testing to relate presence of an SF-related phenotype in a family member with presence or absence of SF genotype.\n\n-We may enroll a child in this protocol if he\u002Fshe is the only person in his\u002Fher family who has the SF, is symptomatic of the disease, or is in the age range to receive screening for the disease (e.g., Wilson disease and familial hypercholesterolemia have childhood onset).\n\nWe will not enroll neonates (less than one month old).\n\n* We may enroll adults who are unable to consent (i.e., an individual who is impaired at the time of consent) in this protocol if he\u002Fshe is the only person in his\u002Fher family who has the SF, is symptomatic of the disease, or is in the age range to receive screening for the disease.\n* We may enroll women who are pregnant in this protocol and women who become pregnant during the study can continue their participation. We will not perform prenatal genetic testing.\n* NIH staff members are not prohibited from enrollment if they meet the study s eligibility criteria. The study team will make every effort to protect the confidentiality of the NIH staff member s health information, to minimize any pressure on or discomfort of the NIH staff\n\nmember and provide a copy of the NIH Frequently Asked Questions (FAQs) for Staff Who are Considering Participation in NIH Research , before consent is obtained.","105 Years",{"count":326,"type":20},"Background:\n\nGenes are the instructions a person s body uses to function. Genome sequencing reads through all of a person s genes. Everyone has many gene variants, and most do not cause disease. Some gene variants called secondary findings may be important for a person s health even if they are not related to the reason why a person had genome sequencing done. Researchers want to learn more about what it means to have a secondary finding.\n\nObjectives:\n\nTo learn about how gene variants may affect a person s health.\n\nTo learn about how people understand their genetic test results.\n\nEligibility:\n\nPeople with secondary findings from genetic testing done as part of a research study, clinical care, or other methods.\n\nDesign:\n\nParticipants may be asked to do an online survey and phone interview to ask what they think about their results, their healthcare, and if they talk with their family about the result.\n\nEligible participants may be offered a visit to the NIH Clinical Center where they will be evaluated for health problems related to the secondary finding.\n\nDNA samples that were already collected may be studied.\n\nParticipants may be asked to send in a second DNA sample (blood or saliva). These will be used to verify any findings.\n\nParticipants who have a secondary finding can get genetic counseling.",[460,461],"Colon Cancer","Breast Cancer",[463,464,465,65,466],"Genome Sequencing","Secondary Findings","Return of Results","Exome Sequencing","2026-06-17",{"date":469,"type":37},"2026-06-18",{"date":471,"type":37},"2014-09-16",{"date":396,"type":20},{"name":43,"class":44},{"id":475,"slug":4,"hasResults":11,"nctId":476,"briefTitle":477,"officialTitle":477,"acronym":4,"eligibilityCriteria":478,"healthyVolunteers":11,"sex":15,"minAge":479,"maxAge":143,"enrollmentInfo":480,"targetDuration":4,"studyType":56,"phases":4,"briefSummary":482,"conditions":483,"keywords":487,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":491,"lastUpdatePostDateStruct":492,"startDateStruct":493,"completionDateStruct":4,"leadSponsor":495,"locationsCount":45},"100139552","NCT01087320","Genome Medical Sequencing for Gene Discovery","* INCLUSION CRITERIA:\n\nAn individual who is affected with a disorder under study and is older than 4 weeks. Our initial list of exemplar disorders has been discontinued; these disorders were examples of those which meet the general attributes for inclusion in this protocol. As stated above, individuals with disorders we choose to investigate under this protocol will generally represent simplex cases with rare phenotypes whose molecular etiology is unknown.\n\nIn rare instances, we may accept DNA from deceased individuals, including DNA or other saved biological specimens from deceased fetuses\u002Fneonates in accordance with Policy 400. These samples may provide us exceptional opportunities to study variants and manifestations of severe genetic overgrowth disorders where the fetus\u002Fneonate is unviable due to the severity of manifestations. In the rare circumstance where we plan to accept samples from non-viable fetuses\u002Fneonates, we may engage with pregnant mothers to begin consent discussions and coordinate specimen collection. We will only enroll pregnant women who voluntarily donate fetal tissue from invasive prenatal testing, and for which trio analysis is appropriate and necessary. While rare, there may be circumstances in which the scientific objectives (to elucidate the molecular etiology of the proband s genetic condition) would not be possible without analyzing the DNA of the fetus\u002Fproband and the biological parents. The conditions set under 45CFR46.205 are met for the inclusion of non-viable neonates:\n\n* Vital functions of the neonate will not be artificially maintained;\n* The research will not terminate the heartbeat or respiration of the neonate;\n* There will be no added risk to the neonate resulting from the research;\n* The purpose of the research is the development of important biomedical knowledge that cannot be obtained by any other means; and\n* The legally effective informed consent is obtained in accord with applicable regulations.\n\nFamily members of an affected individual where that family member (often a parent) is potentially informative or useful for linkage or other bioinformatic analyses of genetic variants may be enrolled. Probands who are minors or decisionally impaired adults are eligible if they have a parent or legal guardian who has authority to sign a consent form on their behalf.\n\nEXCLUSION INCLUSION:\n\nProbands who are adults and decisionally impaired are ineligible if they do not have a legal guardian who has authority to sign a consent form on their behalf.\n\nSubjects who have known, significant affective or psychiatric disorders that, in the judgment of the team, may impair their ability to understand and appropriately use complex medical and genetic information will be considered decisionally-impaired and will be ineligible unless they have appointed (or, in the case of minor children, are in the custody of) an appropriate surrogate decision-maker.\n\nIn addition, guardianship for cognitively impaired adult probands must be legally established and proof of guardianship must be supplied prior to that family s enrollment.\n\nWe request the ability to use this protocol for multiple genetic disorders, without specifically delineating them a priori. We believe this approach to be appropriate because for nearly all inherited disorders, the risks and benefits of GSMS do not substantively differ. This concept was validated by our now-closed protocol 94-HG-0193, which was a broad-based protocol for heritable congenital anomaly disorders, many of which do not fall neatly into a specific diagnostic classification.\n\nAs mentioned, we may request permission to retain some information about prospective participants who, at the time of their inquiry, may not be eligible for the study but who could become eligible in the future. As these participants will not be signing a consent form, we propose to NOT count these participants in our Inclusion Enrollment Reports but will provide the IRB with a tally of retained records at each Continuing Review.\n\nConsent documents for this protocol are available in English and Spanish. In rare instances, we may enroll participants who speak other languages using the NIH Short Written Consent Form Translation.\n\nWe will not enroll pregnant women, except as outlined in the section above.","4 Weeks",{"count":481,"type":20},2000,"Background:\n\n\\- A number of rare inherited diseases affect only a few patients, and the genetic causes of these conditions remain unknown. Researchers are studying the use of a new technology called genome sequencing to learn which gene or genes cause these conditions. Understanding the genes that cause these diseases is important to improve diagnosis and treatment of affected patients.\n\nObjectives:\n\n* To identify the genetic cause of disorders that are difficult to identify with existing techniques.\n* To develop best practices for the medical and counseling challenges of genome sequencing.\n\nEligibility:\n\n* Individuals who have one of the rare disorders under consideration in this study. These conditions are generally those in which the genetic cause of the disorder is unknown. The eligibility of most individual participants will be decided on a case-by-case basis by the researchers.\n* Family members of affected individuals, if that family member (often a parent) may provide genetic information.\n\nDesign:\n\nParticipants in this study will have at least one and in some cases several of the following procedures:\n\n* A medical genetics evaluation.\n* Other tests that may include x-rays, magnetic resonance imaging (MRI) exams, and consultations with other doctors. Not all studies are necessary for each person, but the information from the tests may be required to proceed with some of our gene sequencing studies.\n* Clinical photographs to document certain aspects of the disorder.\n* Blood, saliva, and skin biopsy samples, or other tissue samples, as required by the study doctors.\n* Genetic testing, as decided by the researchers. However, most participants in this study can expect to undergo genome sequencing, which is a technique to study all of a person s genes.\n* Participants will have choices about what kinds of results from genome sequencing they wish to learn.\n* After the tests have been completed and the results of the genetic studies are known, participants may be offered a return visit to the National Institutes of Health to learn these results, or the results may be returned by telephone or by a participant's home provider.",[484,485,486],"Intellectual Disabilities","Congenital Anomaly","Rare Disorders",[486,65,463,488,489,490],"Genetic Disorders","Congenital Disorders","Inherited Diseases","2026-06-16",{"date":467,"type":37},{"date":494,"type":37},"2010-02-18",{"name":43,"class":44},{"id":497,"slug":4,"hasResults":11,"nctId":498,"briefTitle":499,"officialTitle":500,"acronym":4,"eligibilityCriteria":501,"healthyVolunteers":51,"sex":15,"minAge":324,"maxAge":17,"enrollmentInfo":502,"targetDuration":4,"studyType":56,"phases":4,"briefSummary":503,"conditions":504,"keywords":506,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":509,"lastUpdatePostDateStruct":510,"startDateStruct":512,"completionDateStruct":514,"leadSponsor":516,"locationsCount":45},"100394730","NCT04419870","Acute Infection in Mitochondrial Disease: Metabolism, Infection and Immunity","Acute Infection in Mitochondrial Disease: An Observational Prospective Natural History Study of Metabolism, Infection and Immunity","* INCLUSION CRITERIA:\n\nIn order to be eligible to participate in this study, an individual must meet all of the following\n\ncriteria:\n\nGroup 1a\n\n1. Participants must be two months of age or older.\n2. Participants must have a diagnosis of mitochondrial disease based on a determination by a physician with expertise in genetics and\u002For neurology. Supportive evidence may include genetic testing, muscle biopsy, biochemical testing, neuroimaging or enzyme analysis consistent with mitochondrial disease.\n3. At the time of enrollment, participants must have suspected or confirmed acute infection as defined by\n\n   1. New onset of any of the following symptoms within one month of enrollment without an alternative diagnosis: fever, cough, shortness of breath, fatigue, sore throat, rhinorrhea, musculoskeletal pain, vomiting, diarrhea, anosmia, neurologic decline; AND report that testing for infection (e.g. respiratory viral panel, SARS15 COV-2 testing) is clinically indicated based on evaluation by a healthcare provider.\n\n      OR\n   2. Laboratory confirmed positive testing for an infectious disease as performed at a local healthcare setting.\n\nNote: At the time of initial approval of this protocol, testing for COVID-19\u002FSARSCov-2 was not consistently available. In order to avoid bias by limiting recruitment to only those individuals with access to these healthcare resources, inclusion criteria for participants with acute illness were intentionally kept broad. Participants in Group 1 who were initially suspected to have COVID-19 but later found to have an alternative infectious illness were used for comparison studies. In 2023, after the end of the COVID-19 emergency, inclusion criteria for this study were broadened to focus on all acute infections in mitochondrial disease in order to characterize relationships between specific pathogens, immunophenotypes and clinical phenotypes in mitochondrial disease. Please also note that there is no minimum weight requirement for Group 1. However, there is a minimum weight requirement for phlebotomy procedures. Group 1 participants who do not meet minimum weight requirements may enroll for records and questionnaires only.\n\nGroup 1b\n\n1. Participants must be two months of age or older.\n2. Participants must have a diagnosis of mitochondrial disease based on a determination by a physician with expertise in genetics and\u002For neurology. Supportive evidence may include genetic testing, muscle biopsy, biochemical testing, neuroimaging or enzyme analysis consistent with mitochondrial disease.\n3. At the time of enrollment, participants may not have evidence of any acute infection.\n\nNote: Some participants may initially enroll in Group 1b and later experience acute infection, in which case they may be moved from Group 1b to Group 1a.\n\nGroup 2\n\n1. Participants must be two months of age or older.\n2. Participants must weigh greater than 4 kilograms.\n3. Participants must be household or family member of a participant in Group 1 above.\n\nEXCLUSION CRITERIA:\n\nAn individual who meets any of the following criteria will be excluded from participation in this study:\n\nGroups 1 a\\&b\n\n1. Participants who are less than two months of age.\n2. Participants who do not have mitochondrial disease.\n3. Study team may decline to enroll a participant for other reasons based on clinical judgement.\n\nGroup 2\n\n1. Participants who are less than two months of age.\n2. Participants who are not household or family members of Group 1.\n3. Study team may decline to enroll a participant for other reasons based on clinical judgement.",{"count":98,"type":20},"Background:\n\nMitochondrial disease is a rare disorder. It can cause poor growth, developmental delays, muscle weakness, and other symptoms. The disease is usually inherited. It can be present at birth or develop later in life. Infection is a major cause of disease and death in people with this disease. Researchers want to learn more about these infections and the declining health of people who have this disease. To do this, researchers will study the DNA of people who become ill. Their DNA will be compared to the DNA of their household\u002Ffamily members.\n\nObjective:\n\nTo learn more about how genes affect people with mitochondrial disease.\n\nEligibility:\n\nPeople age 2 months and older with mitochondrial disease and their household\u002Ffamily members. .\\\u003CTAB\\>\n\nDesign:\n\nParticipants will complete a questionnaire about their health history. Their medical records may be reviewed. They will give a blood sample.\n\nIf the participant becomes ill, they may have a videoconference with a doctor or nurse at the NIH to perform a physical exam. They may be contacted after their illness to give updates on their health. They may be asked to give extra blood samples or complete extra questionnaires.\n\nParticipants genetic data will be put into a database. The data will be labeled with a code and not their name. The data will be shared with other researchers.\n\nParticipation lasts about 1 year. This may be extended if the participant is very ill.",[505],"Mitochondrial Disease",[104,507,508,65],"Phenotype","Virus","2026-06-12",{"date":511,"type":37},"2026-06-15",{"date":513,"type":37},"2020-10-21",{"date":515,"type":20},"2027-05-01",{"name":43,"class":44},""]