Safety and Effectiveness of Pharmacy Compounded Chenodeoxycholic Acid Capsules for Patients With Cerebrotendinous Xanthomatosis.

Chenodeoxycholic acid (CDCA) is an essential drug for patients with rare metabolic disease cerebrotendinous xanthomatosis (CTX). To ensure continuation of treatment, the Amsterdam UMC hospital pharmacy developed pharmacy compounded CDCA capsules when the authorized CDCA capsules were no longer available for Dutch patients. This study reports the safety of pharmacy compounded CDCA through pharmacovigilance monitoring and assesses its effectiveness by evaluating biochemical outcome measures, both in patients who were previously treated with authorized CDCA and subsequently switched to the compounded formulation and in new patients. Data were generated during routine patient care and collected retrospectively. Adverse events were reported by 45% of the patients; the most reported adverse events were diarrhea (16%), constipation (7%), and fatigue (7%). Biochemically, plasma cholestanol levels and urinary bile alcohol levels remained normalized before and after switching from the authorized product to pharmacy compounded capsules. It can be concluded that the pharmacy compounded CDCA capsules are well tolerated by patients with CTX and that the desired biochemical effect was maintained, supporting the use of a compounded formulation when the authorized product is unavailable.