Congenital bile acid synthesis defect
MONDO:0018841Also known as: BASD, bile acid synthesis defect, congenital, cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency
2 clinical trials for this condition and its sub-types.
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Broader categories
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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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120,000-Person study hopes to crack the code of chronic illness
Knowledge-focused TerminatedThis observational study plans to enroll 120,000 people with various chronic diseases like pancreatitis, diabetes, and arthritis. Researchers will collect blood samples and health data to study how genetics and lifestyle affect disease progression. The goal is to find common dise…
Sponsor: University of Pittsburgh • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:08 UTC