ORPHACOL

Substantial.

The benefits of using cholic acid in the treatment of inborn errors in primary bile acid synthesis due to 3β-hydroxy-∆⁵-C₂₇-steroid oxidoreductase deficiency or ∆⁴-3-oxosteroid-5β-reductase deficiency as soon as they are diagnosed have been established since 1993, when the first hospital preparation was made available in France by the AP-HP [Paris public hospital system], followed by temporary authorisations for use by a named patient [ATU nominative in French] since 2007. In particular, none of the 20 patients followed in France and treated with cholic acid since this date have needed a liver transplant, the only other treatment option. Treatment with cholic acid allows postponing liver transplantation and improving overall symptomatology, normalising lab work results and improving histological liver lesions, with good safety. Several women treated with cholic acid have carried pregnancies to term and given birth to healthy children.

There is an absence of a treatment alternative, other than resorting to liver transplant, for these inborn deficiencies with fatal outcome in the early years of life without treatment. The Transparency Committee considers that ORPHACOL proprietary medicinal products provide a major improvement in actual benefit (IAB I) in the therapeutic strategy.