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Hypercholanemia, familial

MONDO:0100327

Also known as: familial hypercholanemia, hypercholanemia, familial

1 clinical trial for this condition and its sub-types.

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Sub-types

Hypercholanemia, familial 1 (0) Hypercholanemia, familial, 2 (0)

Broader categories

Disease (680) Metabolic disease (233) Inherited lipid metabolism disorder (189) Hereditary disease (176) Inborn errors of metabolism (45) Human disease (14) Disease of genetic or genomic mechanism (2) Inborn disorder of bile acid synthesis (2) Steroid metabolism disease (1) Disease by developmental or physiological process (0)
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  • 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

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