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The first oral therapy for adults and children aged 2 months or older who have spinal muscular atrophy (SMA) has received FDA approval.
A fatal genetic disease that leads to severe muscle weakness, SMA affects about 1 in 8000 to 10 000 people worldwide. Infants with SMA can have difficulty sitting upright, controlling their head movements, swallowing, and breathing. Children with the most common form, type 1, typically do not survive past early childhood.
Risdiplam, marketed as Evrysdi, is given daily as a liquid. In 2019 the FDA approved an intravenous gene therapy for SMA, onasemnogene abeparvovec-xioi, marketed as Zolgensma, which is intended as a 1-time treatment for children younger than 2 years.
Risdiplam increases production of the survival of motor neuron protein, which is critical for maintaining healthy motor neurons and movement, according to a statement from Roche, the manufacturer.
The FDA reviewed results from 2 clinical trials. In an open-label study involving infants, 7 out of 17 participants who received a higher dose could sit independently for more than 5 seconds after 12 months of treatment. This was a “meaningful difference from the natural progression of the disease because almost all untreated infants with infantile-onset SMA cannot sit independently,” FDA officials said.
In a trial of 180 patients aged 2 to 25 years, those who received risdiplam had a clinically important improvement on their Motor Function Measure 32 test scores at 1 year compared with a decline for those who received placebo.
The drug costs up to $340 000 a year, with the maximum based on a patient weight of 44 lb (20 kg), according to a spokesman for the manufacturer.
Jaklevic MC. Oral Drug Approved for Spinal Muscular Atrophy. JAMA. 2020;324(11):1026. doi:10.1001/jama.2020.16783
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