ENDOCRINE, METABOLIC & IMMUNE DISORDERS DRUG TARGETS
Abstract
Background: Bile acid synthesis disorders are rare congenital diseases that can lead to cirrhosis and end-stage liver disease if left untreated. Cholic acid administration is the only treatment that can prevent patients from fatal outcomes. Since 2013 in Europe, there has been just one formulation of cholic acid: Orphacol®. It is difficult to administer to infant patients because of its formulation (capsules) and the need for dose titration depending on the patient’s weight.
Case Presentation: Two sisters affected by 3-β-hydroxy-Δ-5-C27-steroid dehydrogenase deficiency showed soon after birth failure to thrive, cholestasis, and fat-soluble vitamin deficiency. Both biochemical findings and liver biopsies confirmed cholestasis and initial liver damage. Patients were treated for eight years with a liquid formulation of a cholic acid galenic compound, and then they started to be treated with capsules of the registered drug. Clinical conditions and biochemical findings were checked periodically during both therapies.
Conclusion: Clinical and laboratory data showed no differences between the cholic acid galenic compound and the registered drug in terms of efficacy and safety. Furthermore, the galenic compound showed benefits of more manageable dose titration, easier intake due to its liquid formulation, and lower costs than commercial cholic acid capsules.
