After FDA Approval, EMA Accepts Marketing Authorization Application for First Oral SMA Therapy

Spinal muscular atrophy (SMA), a hereditary disease that causes weakness and muscle wasting, now has an FDA-approved oral therapy. The FDA approved risdiplam (Evrysdi) to treat patients 2 months and older with SMA.

The disease is rare and often fatal, and it causes patients to lose lower motor neurons that control movement. The FDA approved the drug on August 7, and on August 17, the European Medicines Agency accepted the marketing authorization application (MAA) for the treatment.

“The acceptance of the MAA for Evrysdi marks an important milestone as we continue towards the goal of making this ground-breaking therapy available globally to a broad range of SMA patients," Stuart W. Peltz, PhD, CEO of PTC Therapeutics, said in a statement. "Evrysdi has consistently demonstrated clinically meaningful results in multiple clinical trials with a favorable safety profile.”

The MAA submission was based on efficacy and safety data from 2 clinical studies for the treatment of patients with infantile-onset and later-onset SMA. The FIREFISH trial evaluated risdiplam in infantile-onset SMA in patients aged 1 to 7 months. The study included 21 patients, and efficacy was established based on the ability to sit without support for at least 5 seconds and survival without permanent ventilation. FIREFISH found that 90% of all infants were alive without permanent ventilation and reached 15 months of age or older, and 81% were alive without permanent ventilation after 23 months of treatment and reached an age of 28 months or older.

SUNFISH studied risdiplam in later-onset SMA and included 180 patients between the ages of 2 and 25. The 2-part, placebo-controlled trial found statistically significant improvement in motor function among children and adults as measured by a change in baseline in the Motor Function Measure - 32 items score. The treatment also improved upper limb motor function compared with baseline as measured by the Revised Upper Limb Module.

The MAA also used safety data from JEWELFISH, an open-label, exploratory trial assessing risdiplam in patients with SMA between the ages of 6 months and 60 years who had received other SMA therapies for at least 90 days prior to receiving risdiplam.

“Evrysdi is the first drug for this disease that can be taken orally, providing an important treatment option for patients with SMA, following the approval of the first treatment for this devastating disease less than 4 years ago,” Billy Dunn, MD, director of the Office of Neuroscience in the FDA’s Center for Drug Evaluation and Research, said in a statement when the FDA approved the treatment.

Risdiplam is created by PTC Therapeutics but will be marketed by Genentech, a member of the Roche Group.