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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Congenital bile acid synthesis defect, type 2


Other Names for this Disease
  • CBAS2
  • Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency
  • Cholestasis, with delta(4)-3-oxosteroid 5-beta-reductase deficiency
  • Congenital bile acid synthesis defect type 2
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Treatment

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  • Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.

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Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Congenital bile acid synthesis defect, type 2. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Medical Products

The medication(s) listed in the table(s) below have been approved by the Food and Drug Administration (FDA) for treatment of this condition. The FDA Office of Orphan Products Development designates "orphan products" for those that treat rare diseases affecting fewer than 200,000 Americans. The table(s) below may not be an exhaustive list of drugs or products used to treat this condition. There may be other products available that are not considered orphan products. To search for all FDA approved drugs, visit Drugs@FDA. You can find orphan products used to treat other conditions by searching the Orphan Drug Product Designation database.


Generic Name cholic acid
Trade Name
(Manufacturer Name)
Cholbam
(Asklepion Pharmaceuticals, LLC)
Indication
The FDA has approved this product to be used in this manner.
Treatment of bile acid synthesis disorders due to single enzyme defects and as adjunctive treatment of peroxisomal disorders including Zellweger spectrum disorders in patients who exhibit manifestations of liver disease, steatorrhea or complications from decreased fat soluble vitamin absorption.
More Information about this product Drug Information Portal

Other Names for this Disease
  • CBAS2
  • Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency
  • Cholestasis, with delta(4)-3-oxosteroid 5-beta-reductase deficiency
  • Congenital bile acid synthesis defect type 2
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.