Spinal Muscular Atrophy Drug Approved in Europe

The European Commission (EC) has granted marketing clearance for risdiplam (Evrysdi, PTC Therapeutics), the first oral treatment for patients with certain types of spinal muscular atrophy (SMA).

Risdiplam is indicated for the treatment of 5q SMA in patients aged 2 months and older who have a clinical diagnosis of type 1, 2, or 3 SMA or who have one to four SMN2 copies.

SMA is a rare and often fatal genetic disease that causes muscle weakness and progressive loss of movement.

SMA, which affects about 1 in 10,000 babies, is caused by a mutation in the survival motor neuron 1 (SMN1 ) gene. The gene encodes the SMN protein, which is critical for the maintenance and function of motor neurons.

Risdiplam is an orally administered, centrally and peripherally distributed small molecule that modulates survival motor neuron 2 (SMN2) premessenger RNA splicing to increase SMN protein levels.

As reported by Medscape Medical News, the EC approval of risdiplam for SMA follows a positive opinion by the The Committee for Medicinal Products for Human Use of the European Medicines Agency.

The EC approval is based on safety and efficacy results from two studies: the FIREFISH study involving infants aged 2 to 7 months with symptomatic type 1 SMA, and the SUNFISH study involving children and young adults with type 2 or 3 SMA.

More than 3000 patients with SMA ranging in age from infancy to 70+ years have been treated with risdiplam in clinical trials, compassionate use programs, and real-world settings, including those previously treated with other SMA therapies, the manufacturer said in a news release.

The main adverse reactions observed in trials were headaches; mouth ulcerations; aphthous ulcers (canker sores); urinary tract infections, including cystitis; arthralgia; nausea; pyrexia (fever); and dizziness/vertigo.

The EMA reviewed the marketing application for risdiplam under an accelerated timetable to allow patients faster access to the medicine.

“We’re thrilled that Evrysdi, with proven efficacy and safety, has been rapidly approved in Europe so that the SMA community will now have access to a much needed convenient at-home treatment,” said Stuart W. Peltz, PhD, chief executive officer of PTC Therapeutics, said in the release.

As reported by Medscape Medical News, the US Food and Drug Administration last August approved risdiplam for adults and children at least 2 months old with SMA.

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