Rare treatment, real barriers A critical appraisal of cholic acid treatment

The thesis Rare Treatment, Real Barriers: A Critical Appraisal of Cholic Acid Treatment, explores the pharmaceutical, regulatory, and clinical dimensions of cholic acid (CA) therapy for patients with rare bile acid synthesis disorders (BASDs). While CA is an authorized orphan drug in the EU and US, its evidence base is limited and access in the Netherlands has been unavailable. To address this gap, the Amsterdam UMC developed a pharmacy-compounded CA formulation to enable both patient care and clinical research.
The work demonstrates how pharmacists can bridge the gap between unavailable commercial medicines and patient needs by developing safe, high-quality compounded formulations under Good Manufacturing Practice (GMP) conditions. The thesis evaluates the analytical quality of CA as an active pharmaceutical ingredient, validates the compounded formulation, and confirms its stability and safety. A prospective clinical study further assesses long-term biochemical and clinical effects in patients with AMACR and 3β-HSD deficiency, showing biochemical improvement and good tolerability.
Beyond its clinical findings, the thesis highlights the broader role of pharmacy compounding as an instrument of pharmaceutical innovation, access, and personalized medicine. It underscores the societal and ethical responsibility of pharmacists to ensure continuity of care when industrial supply fails or becomes unaffordable.
By integrating pharmaceutical science, clinical research, and policy analysis, this work illustrates how the pharmacist’s expertise remains essential in safeguarding access to effective treatment for patients with rare diseases.