BioMarin Pharmaceutical Inc., a company that develops and commercializes biopharmaceuticals for serious diseases and medical conditions, recently announced conclusion of the continuing proposal of a New Drug Application (NDA) to the FDA for drisapersen, an investigational exon-skipping drug candidate aimed at treating the largest genetically defined subset of Duchenne muscular dystrophy (DMD).
DMD a deadly genetic disorder diagnosed in childhood. The disorder affects about 1 in every 3,500 live male births, with estimates showing that each year approximately 20,000 new cases are diagnosed worldwide.
Drisapersen is a compound that is able to induce the skipping of dystrophin exon 51, with recent studies showing that it may offer therapeutic benefit for patients with DMD for whom skipping of exon 51 re-establishes the appropriately dystrophin reading frame, accounting for nearly 13% of patients with DMD. During the summer of 2015, BioMarin is also planning to submit an application for registration in Europe.
“We believe drisapersen may offer a meaningful benefit to boys living with DMD whose mutations are amenable to exon 51 skipping. The totality of data on drisapersen contains three randomized, placebo-controlled, efficacy trials and two long term extension studies, which include some boys treated for approximately 3.4 years,” said Camilla V. Simpson, Global Head of Regulatory Affairs, Pharmacovigilance in a recent release. “With this application, BioMarin continues in its long-standing tradition of developing important therapies for those who are most in need. The submission of the NDA represents a significant milestone for BioMarin, and we appreciate the strong, collaborative effort of many hard working employees, investigators, patients and their families. We look forward to working with the U.S. Regulatory Authorities to thoroughly understand the data generated for this heterogenous and critically ill patient population and hopefully to bring this treatment to patients expeditiously.”
The FDA granted Drisapersen with Breakthrough Therapy designation and also Orphan and Fast Track status.
The cause of DMD is a genetic change that affects the muscles. Muscles contain a chemical (protein) called dystrophin, which is necessary for muscles to function properly. People with DMD have a shortage of dystrophin in their muscles. The lack of dystrophin leads to muscle fiber damage and a gradual weakening of the muscles. The shortage of dystrophin is caused by a faulty gene. Currently there are no approved drugs in the U.S. for DMD.
“This is a first for the Duchenne community, and we are filled with hope that there could be a treatment for Duchenne in the United States,” said Debra Miller, co-founder and CEO of CureDuchenne in the news release. “CureDuchenne has been supporting the development of drisapersen for more than a decade, and we are delighted that BioMarin has reached this important stage. We salute the researchers who have been working so hard, and we share their determination to find a cure for Duchenne.”