Pharmacy compounding for rare diseases The story of CDCA

The Amsterdam UMC hospital pharmacy started compounding chenodeoxycholic acid (CDCA) capsules for its patients with cerebrotendinous xanthomatosis (CTX) when the authorized product became unavailable due to reimbursement issues. Treatment with CDCA is crucial for restoring low or absent levels of endogenous CDCA in patients with CTX. This thesis describes how the pharmacy developed the CDCA capsules from raw material, how its pharmaceutical quality was established, and how its pharmacological properties and its safety and effectiveness were investigated in healthy volunteers and in patients, respectively. Our story highlights the importance of pharmacy compounding and demonstrates the feasibility for hospital pharmacies to develop their own drugs when an authorized alternative is unavailable or inaccessible. It can be concluded that the compounded CDCA capsules are of high quality and are well tolerated and effective in patients with CTX.