Christelle Huguet, PhD, Head of Research and Development at Ipsen, discusses the company’s current approved orphan drugs and those in development for rare diseases.
Ipsen’s work in the rare disease space aims to address areas of high unmet medical needs; such as in disease spaces where current standard of care falls short or in spaces where no therapy currently exists. Three such diseases are fibrodysplasia ossificans progressiva (FOP) and rare liver conditions such as primary biliary cholangitis (PBC) and progressive familial intrahepatic cholestasis (PFIC).
Current Rare Disease Therapies
For managing patients with FOP, the company earned the first treatment approved for this rare condition, Sohonos (palvarotene). Palvarotene is an orally bioavailable retinoic acid receptor agonist that binds to RARγ, leading to reduced new endochondral bone formation. Another orphan drug in development by Ipsen is, fidrisertib, an oral investigational therapy designed to selectively target the mutant FOP receptor currently being evaluated for FOP in the FALKON phase 2 trial.
Regarding the management of rare liver disorders,the company has gained approvals for Irivo (elafibranor), a peroxisome proliferator-activated receptor agonist, for PBC and Bylvay (odevixibat), an ileal sodium/bile acid cotransporter inhibitor for PFIC and Alagille syndrome. Ipsen has also expanded into the rare oncology space with work in pediatric low-grade glioma where tovorafenib, a type 2 RAF inhibitor and alternative to chemo, was approved by the FDA in 2024.
Challenges of Rare Disease Development
Dr. Huguet describes some of the unique challenges associated with drug development in the rare disease space including a limited number of patients and limited existing research. These pose obstacles in clinical trial design and enrollment as well as in the development of primary endpoints to garner regulatory registration and approval.
Dr. Huguet also highlights the importance of the patient voice in clinical trial design where there is little known about the underlying biology of disease and patient journey. Information on a patient’s daily life and experiences can help develop more effective and patient-focused clinical trials with robust endpoints.
Ipsen is also currently evaluating the use of odevixibat in patients with biliary atresia and elafibranor in patients with primary sclerosing cholangitis, with read outs and registrational study development planned for 2026.
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To learn more about drug development in rare diseases, visit https://checkrare.com/drug-development/
