The ongoing SAPPHIRE clinical trial testing apitegromab, Scholar Rock’s investigational muscle-directed therapy, in people with spinal muscular atrophy (SMA) is expected to complete patient enrollment later this year, the company announced. Top-line data from the trial are anticipated in 2024. Should results be positive, Scholar Rock expects…
A significant proportion of people with spinal muscular atrophy (SMA) do not remain on Spinraza (nusinersen) or receive treatment injections as prescribed, according to a U.S. insurance claims analysis. “SMA can be treated, but it is important that patients receive their scheduled doses of medicine as prescribed and…
The team at SMA News Today brought you daily coverage of the latest developments in treatment and advancements in research related to spinal muscular atrophy (SMA) in 2022. We look forward to continuing to serve the SMA community in the new year. Here we’ve compiled a list of…
Last month, I sat at the kitchen table intently wrapping a birthday present as the sunlight began to fade. My home health nurse sat beside me in the dwindling light, with a piece of tape on her extended finger for when I would need it. “I wish…
Severe scoliosis — an abnormal curvature of the spine — was significantly associated with older age and limited motor abilities in children with spinal muscular atrophy (SMA) type 2 who had not received disease-modifying therapies, a study showed. These findings establish characteristics of untreated scoliosis progression on SMA type…
The one-time gene therapy Zolgensma (onasemnogene abeparvovec-xioi) was safe and effective in a baby girl with spinal muscular atrophy (SMA) type 1 who was previously on Evrysdi (risdiplam) for about three months, a case study reports. This likely represents the first report of safety and efficacy outcomes of…
Disease-modifying therapies (DMTs) used for spinal muscular atrophy (SMA) may contribute to the development of therapies for age-related progressive loss of muscle mass and strength, or sarcopenia, new research suggests. The survival muscle neuron (SMN) protein, whose deficiency causes SMA, was found at progressively lower levels with aging in…
With all due gravity, I informed the group chat about my latest hypothesis. “I think I might be lactose intolerant.” “NO,” said one friend. “NOOOOO,” said another. I explained that I’d been experiencing some strange symptoms around dinnertime. Initially, I assumed it had something to do with Evrysdi (risdiplam),…
Damn Taylor Swift and her lyricism. I had a different plan for this column, with a different title in mind for it. I was going to ramble about moving out of the condominium I’ve been staying in for almost two years. There was to be a farewell to its inaccessible…
After two years of treatment with Evrysdi (risdiplam), most babies with spinal muscular atrophy (SMA) type 1 in the FIREFISH clinical trial are still alive without a need for permanent ventilation, and many of the youngsters are showing continual improvements in motor development. The results were published in …