Genetic causes of adult bile duct disease
Part of Digestive system, Genetic & congenital clinical trials.
This study looks for new genes that might cause abnormal liver test results or specific bile duct diseases in adults, when standard testing hasn't found a clear cause. It also uses healthy blood donors as a comparison group.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You are an adult (over 18) with unexplained, ongoing elevations of specific liver enzymes (ALP or GGT) for at least six months, or have a family history of unexplained cholestasis or liver/bile duct cancer.
- Your previous genetic tests for known causes (PFIC genes or whole exome sequencing) were negative, or you have not had these tests yet.
- You might have primary sclerosing cholangitis (PSC) with uncommon features, such as small‑duct disease, unusual imaging results, or no inflammatory bowel disease.
- You might have primary biliary cholangitis (PBC) without the typical anti‑mitochondrial antibodies in your blood.
- You must not already have a known genetic diagnosis that explains your symptoms, and you must not have other causes of liver disease like viral hepatitis or autoimmune hepatitis.
- For the control group: you are a blood donor aged 18–65 with normal liver function tests and no chronic diseases or immune disorders.
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
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