Roche’s experimental oral treatment risdiplam can safely and effectively halt disease progression in infants with type 1 spinal muscular atrophy (SMA) under 7 months of age, according to top-line data from Part 2 of the FIREFISH trial. After one year of treatment, most of these 41 babies…
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While there are few silver linings to the cloud created by COVID-19, the pandemic that has killed tens of thousands, hobbled economies worldwide and drove millions to quarantine in their homes, one may be a new appreciation of telemedicine. “If something good could come out of this crisis, it’s that…
Blood levels of biomarkers of muscle mass and damage — rather than nerve cell damage — are significantly altered in people with spinal and bulbar muscular atrophy (SBMA) and in a mouse model of the disease, a study has found. Data also highlighted that the levels of creatinine,…
Mutations in genes that interact with the SMN protein, which is lacking or present at low levels in spinal muscular atrophy (SMA) patients, are not able to explain the wide range of severity found in all forms of the disease, a study reports. The study, “Analysis…
The National Organization for Rare Disorders (NORD) has opened a financial assistance program for people in rare disease community who are affected by the COVID-19 pandemic in the U.S. Called the NORD COVID-19 Critical Relief Program, the effort will provide up to $1,000 annually to those eligible to…
Among people with spinal muscular atrophy (SMA) and other neuromuscular disorders, participation in adapted sports is associated with greater self-esteem, lesser depression, and a better quality of life, a study shows. The study, “Psychosocial impact of sport activity in neuromuscular disorders,” was published in Neurological Sciences.
Spinal fusion surgery — a procedure to fuse two or more spine vertebrae — is more successful at reducing spine curvature in children with spinal muscular atrophy (SMA) type 1 and 2 if they have previously been given growth-friendly spinal implants, a study reports. But the…
Researchers in Germany have found that newborn screening for spinal muscular atrophy (SMA) would likely be beneficial, based on evidence that early diagnosis and treatment leads to better motor development such as walking and sitting independently, less need for permanent ventilation, and lower mortality. The…
Delays in diagnosing spinal muscular atrophy are still evident, particularly for those with SMA type 3, despite recent changes in recommendations for disease detection and care, a study from Italy reports. Such delays are particularly relevant as targeted therapies are now available, and growing evidence links greatest benefit to…
The systemic nature and high specificity of risdiplam — an oral treatment under review in the U.S. to possibly treat all types of spinal muscular atrophy (SMA) — are key to its effectiveness and favorable safety profile. In an interview with SMA News Today, Paulo Fontoura, MD,…
