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A child with spinal muscular atrophy receiving oral medication (risdiplam)
Risdiplam is the latest in a series of breakthrough treatments for infants with type 1 SMA. (Images: AdobeStock / Image: Sebastian Stankjich, Boston Children’s Hospital)

Until recently, children and children with spinal muscular atrophy (SMA) lacked any treatment that could stop the progression of neuromuscular disease. In SMA, damaged motor spinal neurons are unable to send the right messages to muscle cells. As a result, infants and children with SMA are unable to hold their head, sit, or walk due to the severity of the mutation.

In: The: New England Journal of Medicine: Basil Darras բժիշ, a physician at Boston Children’s Hospital, last week և colleagues showed good results with risdiplam, the last of several treatments to change SMA disease over the past decade. Unlike earlier treatments, it is a small molecular drug that can be taken orally.

By the time children with SMA-1 come to us, they have already lost 50 percent or more of motor neurons. “If we can diagnose them before they become symptomatic, we can start medication very early և make a real difference for these children.”

41 newborns from 14 centers, aged 1 to 7 months, with the 1st type of SMA, the most severe disease of the disease, participated in the open trial. Symptoms are present during the first six months. և Affected babies usually die within two to three years. Compared to untreated historical subjects, the treated infants had improved motor function, including the ability to sit for some time without assistance. They were more likely than controllers to reach the driving points; they lived longer than expected.

Address the root cause of SMA

Boston Pediatric Neurologist Randolph Bayers, neuroscientist Betty Banks, MD, first defined pediatric SMA in 1961. to: For the past decade, Boston Children’s has been heavily involved in clinical trials for the development of the main cause of SMA therapies. Sufficient SMN protein required for the normal functioning of motor neurons. Deficiency is the result of mutations in both SMN1: և its “backup” gene, SMN2:,

In 2004, Darras co-founded the Pediatric Neuromuscular Clinical Research Network (PNCRN) for SMA to accelerate the search for treatments at research centers, including Boston Pediatric.

“There is only one place for rare disease that can not be clinically tested,” said Darras, who runs the Spinal Muscular Atrophy Program at the Boston Children’s Neuromuscular Center. “Because we were able to bring researchers together at PNCRN, we were able to successfully complete the necessary natural history research, develop results measures that were used in clinical trials to measure drug efficacy.”

Tim Schedule From the first description of spinal muscular atrophy to risdiplam, SMA oral medication
Research on SMA goes back more than 50 years.

Decade of clinical success at SMA

In seven years, the first SMA drug, nusinersen (Spinraza), underwent clinical trials at other Boston Children’s Centers. Entering the spinal canal with a lumbar puncture, Nusinsen is an antisensory oligonucleotide that works by directing the “copy” SMN2: gene to make more SMN protein. Boston Children’s was the first hospital in the world to include a child in a key ENDEAR clinical trial in August 2014. The drug was approved by the FDA in December 2016, and since then the Darras team has treated more than 100 infants, children and adults with nusinersen. ,

In May 2019, after successful clinical trials at Boston Children’s Clinic, gene replacement therapy (Zolgensma) became an option for children under 2 years of age with SMA. Considering a single, single infusion, the treatment gives the right option SMN1: gene: To date, the SMA program has treated 33 children with gene replacement therapy.

And in August 2020, the US Food and Drug Administration approved risdiplam (Evrysdi) for adults և 2 months և older children. Again, the Darras team was at the center of clinical trials, which led to the current ՆԵ J Մ: report և previous: ՆԵ J Մ: 2021 in March. Like nusinersen, risdiplam stimulates the body to produce more SMN protein, but in a different way. Instead of requiring a spinal tap, risdiplam is given as a daily oral medication. About 15 children and adults are currently receiving risdiplam SMA.

SMA examination of newborns

The Darras և SMA program continues to explore new therapies, such as the use of a monoclonal antibody to increase the growth of muscle fibers in children with SMA. At the same time, thanks in part to Darras lobbying, Massachusetts became one of the first two US states to conduct a neonatal SMA survey in January 2018. Today, 32 states have development plans, and all 50 states are expected to implement screening programs by 2022.

“By the time children with SMA-1 come to us, they have already lost 50 percent or more of motor neurons,” he says. “If we can diagnose them before they become symptomatic, we can start medication very early, and quite often make a real difference for these children to prevent the disease.”

Learn more about the SMA program at Boston Children’s Hospital.

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