Study of Bile Acids in Patients With Peroxisomal Disorders
Recruitment status was Not yet recruiting
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.
Infantile Refsum's Disease
Bifunctional Enzyme Deficiency
Drug: chenodeoxycholic acid
Drug: cholic acid
|Study Design:||Primary Purpose: Treatment|
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.
|Contact: Kenneth Setchell||513-636-4548|
|Study Chair:||Kenneth Setchell||Children's Hospital Medical Center, Cincinnati|