In individuals with bile acid synthesis disorders (BASD), failure in the primary bile acid synthetic pathway results in lower levels of primary bile acids, increased cholesterol synthesis, and the formation and accumulation of hepatotoxic atypical bile acids. Primary bile acid treatment inhibits bile acid synthesis, decreases the generation of hepatotoxic intermediates, and results in a functioning bile acid pool that promotes normal liver function. This phase 3, open-label, single-arm trial comprised BASD patients who had previously received cholic acid as part of another research or who were newly diagnosed. Urinary atypical bile acids, serum liver chemistries, body weight, and height were all used to determine efficacy. Efficacy evaluations compared baseline to either the poorest or greatest postbaseline response. The list of treatment-emergent adverse events (TEAEs) was compiled. There were 22 treatment-naive patients and 31 individuals on cholic acid from prior research out of a total of 53 patients. The average age of diagnosis was 55 months, while the current study’s baseline age was 9 years. Following cholic acid administration, serum alanine aminotransferase and aspartate aminotransferase levels tended to drop from baseline in treatment-naive individuals but remained steady in previously treated patients. Patients who had not received treatment improved in all baseline-to-best postbaseline evaluations. Upper respiratory tract illness was the most prevalent TEAE.

For individuals with BASD, oral cholic acid is a safe and effective short- and long-term treatment.