* The US FDA finalized a guidance on 26th December 2023, on drug development programs for rare diseases. It is aimed at assisting orphan drug sponsors and covers nonclinical pharmacology and toxicology, trial design and endpoint selection, the evidence standard for establishing safety and effectiveness, and drug manufacturing issues.

* In a panel discussion sponsored by the National Organization for Rare Disorders (NORD), officials from the FDA stressed the value of leveraging data from natural history studies to promote the development of additional treatments for rare diseases. In 2023, the FDA granted approval for two rare drugs for which natural history studies were utilized to support the application; Skyclarys (omaveloxolone) for Friedreich’s ataxia and Daybue (trofinetide) for Rett syndrome.

* The number of orphan drugs approved by the agency is now on par with other novel approvals. From 2015 to 2022, about half of new drugs and biologics were approved for rare disease indications

* On June 22nd, 2023, the FDA approved Elevidys, the first gene therapy for treatment of pediatric patients of ages 4-5 with Duchenne muscular dystrophy (DMD). DMD is a rare genetic condition that leads to wasting away of the individual’s muscles. It is brought about by mutations in the dystrophin gene.

* Elevidys was developed by Sarepta Therapeutics, a biotechnology company based in the US, in collaboration with Roche, a Swiss multinational healthcare company. Results of the Phase 3 clinical trials were announced on October 30th, 2023, and according to a press release by Sarepta Therapeutics, “ELEVIDYS modifies the trajectory of Duchenne and benefits patients across age groups living with this ferociously degenerative disease.”

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