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Sponsored by: |
Department of Veterans Affairs |
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Information provided by: | Department of Veterans Affairs |
ClinicalTrials.gov Identifier: | NCT00018694 |
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 | Intervention |
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Cerebrotendinous Xanthomatosis |
Drug: Chenodeoxycholic Acid |
Study Type: | Interventional |
Study Design: | Treatment, Non-Randomized, Open Label |
Official Title: | Biologic Significance of Cholestanol in Man |
Study Start Date: | 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.
Ages Eligible for Study: | 5 Years to 80 Years |
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | No |
Inclusion Criteria:
Study ID Numbers: | GAST-007-99S |
Study First Received: | July 3, 2001 |
Last Updated: | January 20, 2009 |
ClinicalTrials.gov Identifier: | NCT00018694 History of Changes |
Health Authority: | United States: Food and Drug Administration |
bile acid synthesis chenodeoxycholic acid sterol 27-hydroxylase |
Lipid Metabolism, Inborn Errors Metabolism, Inborn Errors Xanthomatosis Laxatives Cerebrotendinous Xanthomatosis Metabolic Diseases |
Genetic Diseases, Inborn Chenodeoxycholic Acid Cathartics Xanthomatosis, Cerebrotendinous Metabolic Disorder Lipid Metabolism Disorders |
Lipid Metabolism, Inborn Errors Metabolism, Inborn Errors Xanthomatosis Metabolic Diseases Genetic Diseases, Inborn Therapeutic Uses |
Chenodeoxycholic Acid Gastrointestinal Agents Cathartics Xanthomatosis, Cerebrotendinous Pharmacologic Actions Lipid Metabolism Disorders |