Inborn disorder of bile acid synthesis
MONDO:0019218Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis.
Also known as: Bile Acid Synthesis Disorders, inborn bile acid biosynthetic process disorder, inborn error of bile acid biosynthetic process, rare inborn error of bile acid biosynthetic process, disorder of bile acid synthesis, inborn errors of bile acid synthesis
12 clinical trials for this condition and its sub-types.
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Broader categories
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New york program offers extra screening for 100,000 newborns
Diagnosis ENROLLING_BY_INVITATIONScreenPlus is a large pilot program that offers families the option to have their newborn screened for a panel of rare genetic disorders, in addition to standard newborn screening. The study aims to screen 100,000 infants born at eight hospitals in New York. Researchers will eval…
Sponsor: Albert Einstein College of Medicine • Aim: Diagnosis
Last updated Jul 30, 2026 00:00 UTC
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Newborn screening study aims to catch rare diseases at birth
Diagnosis OngoingThis study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…
Sponsor: RTI International • Aim: Diagnosis
Last updated Jul 03, 2026 00:00 UTC
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Could a common cholesterol drug ease chronic diarrhoea?
Symptom relief OngoingThis study tests whether atorvastatin, a drug typically used for cholesterol, can reduce bile acid production and improve symptoms in people with bile acid diarrhoea (BAD). Twenty adults with moderate-to-severe BAD will receive atorvastatin and a placebo in random order, each for…
Phase: PHASE4 • Sponsor: Asger Lund, MD • Aim: Symptom relief
Last updated Aug 13, 2026 00:00 UTC
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Can a decade of real-world data refine treatment for rare bile acid disorders?
Knowledge-focused OngoingThis study is a patient registry that will follow people of any age with bile acid synthesis disorders who are treated with Cholbam (cholic acid). The goal is to collect information over 10 years on how the drug performs in routine clinical care, including its safety, effectivene…
Sponsor: Mirum Pharmaceuticals, Inc. • Aim: Knowledge-focused
Last updated Aug 02, 2026 00:00 UTC
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Major study on rare childhood liver diseases halted
Knowledge-focused TerminatedThis study followed children and young adults with genetic liver diseases that cause bile buildup. The goal was to track how these diseases progress over time, including the need for liver transplants or other complications. No treatments were tested; the aim was simply to learn …
Sponsor: Arbor Research Collaborative for Health • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:02 UTC