Hypercholanemia, familial 1

MONDO:0031446

A very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent.

Also known as: hereditary hypercholanemia, FHCA1

1 clinical trial for this condition and its sub-types, 0 tagged with Hypercholanemia, familial 1 itself.

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Including sub-types (1) Tagged with Hypercholanemia, familial 1 (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

Hypercholanemia, familial 1

Where it sits in the disease tree

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