Home | | | Search | | | Browse | | | Resources | | | Help | | | What's New | | | About |
---|
Cholestanol in Humans
This study is currently recruiting patients.
Sponsored by: | Department of Veterans Affairs |
---|---|
Information provided by: | Department of Veterans Affairs |
Purpose
The treatment of cerebrotendinous xanthomatosis an in born error of bile acid synthesis with chenodeoxycholic acid. Patients with this disease over produce cholestanol and bile acid precursors because of the block in synthesis. Replacement with chenodeoxycholic acid shut down abnormal pathway and reduces elevated level of cholestanol and improves the clinical syndrome.
Condition | Treatment or Intervention |
---|---|
Cerebrotendinous Xanthomatosis |
Drug: Chenodeoxycholic Acid |
MedlinePlus related topics: Genetic Disorders; Metabolic Disorders; Skin Diseases
Study Type: Interventional
Study Design: Treatment, Non-Randomized, Open Label
Official Title: Biologic Significance of Cholestanol in Man
Study start: October 1999
Cerebrotendinous xanthomatosis is a recessively inherited in born of bile acid synthesis due to a mutation in sterol 27-hydroxylase (CYP27A1). Patients with this disease suffer from xanthomas located in the brain and tendon, accelerated atherosclerosis progression neurologic disease and cataracts. Plasma cholesterol levels are normal but cholestanol and C-27 bile alcohol that precursor of bile acid synthesis accumulate and are believe are responsible for the atherosclerosis, xanthomas and neurologic disease. Analysis of the bile reveal a severe sufficiency of the primary bile acid chenodeoxycholic acid that can not be produce because of the inherited defect. However, replacement of chenodeoxycholic acid in the enterohepatic pool inhibit abnormal bile acid synthesis and reduces the elevated level of cholestanol and C-27 bile alcohol this therapy halt the neurologic disease and prevents symptomatic atherosclerosis developing.
Eligibility
Ages Eligible for Study: 5 Years - 80 Years, Genders Eligible for Study: Both
Criteria
Location and Contact Information
More Information
U.S. National Library of Medicine, Contact NLM Customer Service | ||||||||||||||
National Institutes of Health, Department of Health & Human Services | ||||||||||||||
Copyright, Privacy, Accessibility, Freedom of Information Act |