Inherited Metabolic Disorders

3

Review clinical trials related to Inherited Metabolic Disorders. Use filters to narrow results by trial status, phase, treatment, biological sex and sponsor.

Condition / disease
Location
Status: Recruiting

Caregiving Networks Across Disease Context and the Life Course

Background: In 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. Objective: To learn how the caregiving process affects the health and well-being of caregivers over time. Eligibility: Adults 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. Design: Participants 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. Participants 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. Participants 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. Participants 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. Participants may give a blood sample each year they are in the study. ...

Participants needed: 2,800
Trial details
Age: 18-100Biological sex: AllType: ObservationalSponsor: National Human Genome Research Institute (NHGRI)Updated: Jun 26, 2026Locations: 1
Eligibility criteria

Adults aged 18 years and older [+4]

Care Recipients (as defined in this protocol) [+1]

Status: Recruiting

Cord Blood Transplant in Children and Young Adults With Blood Cancers and Non-malignant Disorders

This is a single-arm study to investigate 1-year treatment related mortality (TRM) in patients with life threatening non-malignant and malignant hematologic disorders who do not have a matched related donor for allogeneic transplantation.

Participants needed: 31
Trial details
Phase: Phase 2Age: Up to 21Biological sex: AllType: InterventionalSponsor: Memorial Sloan Kettering Cancer CenterUpdated: Mar 13, 2026Locations: 1
Eligibility criteria

Known prior diagnosis of myelodysplasia (MDS) or myeloproliferative disorder (MP... [+49]

Inadequate performance status/ organ function. [+11]

Status: Not yet recruiting

AI for Newborn Metabolic Screening

The goal of this clinical trial is to evaluate whether an artificial intelligence (AI)-based interpretation system can accurately diagnose inherited metabolic disorders in newborns undergoing routine screening. The main questions it aims to answer are: What is the sensitivity and specificity of the AI system compared to standard manual interpretation? Does the AI system reduce variability in screening results? Researchers will compare the AI interpretation results with those from standard manual review by trained laboratory staff to assess diagnostic performance. Participants will: Have their routine newborn screening blood samples analyzed using both the AI system and standard manual interpretation Be followed according to national newborn screening guidelines if either method indicates a positive result

Participants needed: 200,000
Trial details
Age: 2-28Biological sex: AllType: InterventionalSponsor: The Children's Hospital of Zhejiang University School of MedicineUpdated: Jan 27, 2026Locations: 1
Eligibility criteria

Newborns who underwent routine newborn screening for inherited metabolic disorde... [+2]

Missing, incomplete, or poor-quality screening data [+1]