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Bile acid CoA ligase deficiency and defective amidation

MONDO:0017165

Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis characterized by fat malabsorption, neonatal cholestasis and growth failure.

1 clinical trial for this condition and its sub-types, 0 tagged with Bile acid CoA ligase deficiency and defective amidation itself.

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Part of

↑ Inborn disorder of bile acid synthesis (12)

Including sub-types (1) Tagged with Bile acid CoA ligase deficiency and defective amidation (0)

Not yet finished but already full! 1

Can a decade of real-world data refine treatment for rare bile acid disorders?

Knowledge-focused Ongoing

This 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