Improvement in motor function, breathing, and ease of administration are among the factors that people with spinal muscular atrophy (SMA) and their caregivers value most when deciding on available treatments, a new study reports. The study, “Treatment preference among patients with spinal muscular atrophy (SMA): a…
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The two COVID-19 vaccines that recently received emergency approval from the U.S. and other worldwide regulatory agencies are expected to pose little risk to the rare disease community, including to patients with compromised immune systems or those participating in gene therapy studies. That was the message of a recent…
Among children with neuromuscular disorders, those with spinal muscular atrophy type 1 (SMA 1) appear to be more vulnerable to more severe COVID-19 symptoms, a small study suggests. However, the course of disease in children with neuromuscular disorders overall may not be as…
Four measures of motor ability — including one of continuous upper limb activity that can be done at the home — reliably detect significant functional changes over one or two years in people with spinal muscular atrophy (SMA) types 2 and 3, according to a natural history…
Caring for a loved one with a rare disease, especially during these uncertain times, demands significant time, attention, patience, and dedication. To help meet that need, the National Organization for Rare Disorders (NORD)’s Rare Caregiver Respite Program may be a helpful resource. The program seeks to give a well-deserved…
A free resource booklet, published by Cure SMA, may help people with spinal muscular atrophy (SMA) to better understand the possible risks and benefits of combining different treatments for the disease. The booklet, titled “Scientific Considerations for Drug Combinations,” is available online. The past several years…
Efficacy and safety results from the TOPAZ Phase 2 trial evaluating apitegromab, a muscle-directed therapy for spinal muscular atrophy (SMA) being developed by Scholar Rock, are expected by June, the company announced. “2020 was a transformative year for Scholar Rock with … positive interim data from the TOPAZ…
The COVID-19 pandemic has forced many activities to be online only, but in the case of this year’s Team Cure SMA endurance race series, the limitation means more people can join. Register here for the May 23 virtual endurance event, in which participants can bike, run, or walk to raise…
The first patient has been dosed in a Phase 4 trial exploring the safety and potential benefits of Spinraza (nusinersen) in children with spinal muscular atrophy (SMA) who failed to respond adequately to Zolgensma. The two-year study, called RESPOND (NCT04488133), was launched last year by…
The National Organization for Rare Disorders (NORD) is seeking individuals willing to share real-life experiences with rare diseases to speak at its upcoming virtual Living Rare, Living Stronger NORD Patient and Family Forum. The interactive, patient-focused forum will be held online June 26-27. The deadline to apply for a…
