Study of Bile Acids in Patients With Peroxisomal Disorders

Infantile Refsum's Disease, Zellweger Syndrome, Bifunctional Enzyme Deficiency, Adrenoleukodystrophy

Zellweger syndrome, adrenoleukodystrophy, bifunctional enzyme deficiency, inborn errors of metabolism, infantile Refsum's disease, peroxisomal disorders, pseudo-Zellweger syndrome, rare disease, sphingolipidoses

OBJECTIVES: I. Determine the effectiveness of oral bile acid therapy with cholic acid, chenodeoxycholic acid, and ursodeoxycholic acid in patients with peroxisomal disorders involving impaired primary bile acid synthesis. II. Determine whether suppression of synthesis of atypical bile acids and enrichment of bile acid pool with this regimen is effective in treating this patient population and improving quality of life.

PROTOCOL OUTLINE: Patients receive oral cholic acid and oral chenodeoxycholic acid on day 1. On day 4, patients receive oral cholic and ursodeoxycholic acids. Patients are assessed at 3 and 6 months for liver function response, neurologic status, and nutritional status. Patients receive treatment until disease progression or unacceptable toxic effects are observed. Completion date provided represents the completion date of the grant per OOPD records

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