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Neuromuscular Diseases Awareness: Muscular Dystrophy Assoc. · “Pipeline Of Promise” Treatments: Spinal Muscular Atrophy · Pompe Disease · MDA Let’s Play Gaming (Twitch.tv) · Donate

The US Food and Drug Administration (FDA) granted approval of risdiplam (Evrysdi) for the treatment of spinal muscular atrophy (SMA) in pediatric and adult patients. It is the third disease-modifying therapy approved to treat SMA, the leading genetic cause of infant death. The drug is an orally administered liquid, the first medicine that could be taken at home for people with SMA, and it should be taken daily for the duration of a patient’s life.

Approval of the therapy marks another milestone achievement for the SMA community. Now, in addition to Biogen’s nusinersen (Spinraza) — the first disease-modifying therapy for SMA, which was approved in December 2016— and Novartis AveXis’ onasemnogene abeparvovec-xioi (Zolgensma) — a gene-replacement therapy for SMA that was approved in May 2019 — patients will have access to another promising therapy.

SMA is caused by a mutated or missing survival motor neuron 1 gene (SMN1), which prevents the body from making enough SMN protein. In addition to the SMN1 gene, there is also an SMN2 gene that serves as a “backup” gene for making the SMN protein, though it is not fully functional. Evrysdi is an SMN2-splicing modifier designed to help the SMN2 gene produce more functional SMN protein.

The US Food and Drug Administration (FDA) has also granted accelerated marketing approval to avalglucosidase alfa (Nexviazyme) for the treatment of people 1 year of age and older living with late-onset Pompe disease. It is the second approved drug to treat Pompe disease. Nexviazyme will be made available in the US and marketed by Sanofi Genzyme.

Myozyme (alglucosidase alfa), also developed by Sanofi Genzyme, was approved by the FDA in 2006 for individuals with infantile-onset Pompe disease, also known as as Lumizyme (alglucosidase alfa) for individuals with late-onset Pompe disease. In November 2020, avalglucosidase alfa received FDA Breakthrough Therapy, Priority Review, and Fast Track designations based on positive data from two trials in patients with late-onset and infantile-onset Pompe disease, respectively.

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