Lily Sander will never forget what it was like to meet other people with neuromuscular diseases the first time she attended Muscular Dystrophy Association (MDA) Summer Camp. Living with Charcot-Marie-Tooth disease, Sander had met only one or two other people with neuromuscular diseases in her city. She was…
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Health-related quality of life for spinal muscular atrophy (SMA) patients treated with Spinraza (nusinersen) is closely linked to the well-being of their caregivers, particularly among patients who are able to sit, a South Korean study found. Participants with SMA who had poorer motor function generally reported lower quality…
Scholar Rock is working to bring spinal muscular atrophy (SMA) treatment Isembyld (apitegromab-mstn) to patients worldwide, following U.S. Food and Drug Administration (FDA) approval of the infusion therapy as the first muscle-strengthening agent to treat the disease. “Our work does not stop with the US approval,” Akshay…
After its success in the U.S., Scholar Rock is once again seeking approval in the European Union for its muscle-strengthening drug apitegromab —now launching as Isembyld in America — for spinal muscular atrophy (SMA). The developer has resubmitted an application to the European Medicines Agency (EMA)…
Babies born in maternity wards across the West Midlands, in England, are now being tested for spinal muscular atrophy (SMA) as part of a new National Health Service (NHS) initiative launched on Oct. 1. The regional rollout marks the first phase of a broader effort to expand newborn screening…
Activating a molecular recycling process called autophagy can improve motor function and extend lifespan in a nematode worm model of spinal muscular atrophy (SMA), a new study reports. “We provide the first evidence that pharmacological activation of autophagy enhanced neuromuscular performance in the severe C. elegans SMA model,” researchers…
For many people living with rare neuromuscular diseases, the most meaningful part of a recent Chicago gathering was not just the medical updates — it was finding a community that understood their daily struggles. The realization that they were not alone set the tone for MDA Engage: Chicago, a…
Sleep-related breathing problems were found to ease over time in children with spinal muscular atrophy (SMA) types 2 and 3 receiving the widely approved therapies Evrysdi (risdiplam) or Spinraza (nusinersen). That’s according to a new study from Sweden that followed children and teens with the two disease…
Muscle regeneration, the benefits of a specialized diet, physiotherapy, and assistive technologies are among top priorities for spinal muscular atrophy (SMA) research identified by patients, caregivers, and healthcare professionals from 22 countries in Europe. The top 10 priorities, developed through a series of surveys and a workshop, were published…
The brain has long been thought of as a singular organ, but a new study shows that the front and back parts of the brain actually develop completely independently of each other. This discovery may have key implications for research into diseases like spinal muscular atrophy (SMA), which affects…
