Background:
Primary sclerosing cholangitis is a rare chronic liver disease. It affects the bile ducts of the
liver. It can result in bile duct infections, cirrhosis, cancer, and end stage liver disease. Researchers want to learn more about this disease.
Objective:
To understand the biological causes of primary sclerosing cholangitis.
Eligibility:
Adults age 18 and older who have primary sclerosing cholangitis.
Design:
Participants will be screened with a medical history, physical exam, and blood tests.
Participants will give blood, saliva, urine, and stool samples. They will have nasal swabs. They will complete surveys.
Participants will get an intravenous (IV) catheter. A plastic tube is inserted into an arm vein.
Participants will have a colonoscopy. A tube with a video camera at the end is inserted into the rectum.
Participants will have an upper endoscopy. A scope with a light and camera at its tip is used to look inside the upper digestive tract.
Participants will have a liver biopsy, entering through the chest wall or a neck vein. Blood is drawn from a blood vessel that carries blood to the liver. A liver tissue sample is taken.
Participants will have magnetic resonance imaging or spectroscopy. They will get a contrast agent through an IV.
Participants may have an optional bone marrow aspiration. A large needle is inserted into the hip to withdraw marrow.
Participants will have a liver ultrasound.
Participants will complete a 3-day food diary. They will have a nutrition assessment.
Participants may give contact details for people who live with them, to also take part in this study.
Participation will last for 12 months.
Stated willingness to comply with all study procedures and availability for the duration of the study
Male or nonpregnant female, greater than or equal to 18 years of age
Evidence of PSC established by biochemical testing and either MRCP or ERCP. Participant must have evidence of large duct disease on imaging.
Agreement to adhere to Lifestyle Considerations throughout study duration.
Pregnant or lactating women or females of child-bearing age not taking measures to prevent pregnancy during the period of study.
History of clinical, serologic, or histopathologic evidence supporting etiologies of chronic liver disease other than PSC
History of liver transplantation
Diagnosis consistent with secondary sclerosing cholangitis (cholelithiasis, bile duct strictures secondary to ischemia, HIV cholangiopathy, etc.).
40 male and female adult patients 18 years of age or above with known PSC recruited from hospitals in the continental US. 90 healthy volunteers, male and female 18 years of age or above, who are either family members of participating patients with PSC or have been cohabitating with participating patients with PSC.
Cohort
Prospective
Not listed
The ultimate goal of this study is to generate understanding of how factors driving pathogenesis in PSC interact by capturing and integrating collated datasets from across relevant biologic systems and interpreting those in the context of phenot...
1\. Identification of immune signatures at multiple levels and from different anatomical sites and tissues 2. Characterization of microbiome signatures (taxonomic and functional), as well as identification of specific species. 3. Identification of metabolomic signatures from different anatomical sites and tissues as well as identification of different biomarkers correlating with disease progression. 4. MicroRNA profiling of portal and systemic blood.
To collect comprehensive data on distinct patterns of disease expression, through single cell sequencing and microRNA and transcriptome profiling.
Single cell sequencing, microRNA and transcriptome profiling
To conduct extensive phenotypic characterization of cellular and humoral immune responses as well as microbiome signatures at multiple anatomic sites
Immune phenotyping, immune repertoire sequencing and cytokine profiling techniques, as well as next generation sequencing of microbiota in saliva, stool, blood, bile, small intestine, colon and liver tissue
To evaluate metabolic signatures or biomarkers for PSC diagnosis and prognostication
High throughput metabolomics screening of portal and systemic blood, liver tissue and bile in search of bile acids and other target metabolites
To generate a humanized mouse model of each subject s disease by obtaining bone marrow aspirate
The study of immune phenotype and function in a host (in this case the mouse) na(SqrRoot) ve to immunosuppressive therapy
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