Ontario has expanded publicly funded access to Spinraza (nusinersen) to cover spinal muscular atrophy (SMA) types 2 and 3. The decision specifically covers presymptomatic patients with two or three copies of the SMN2 gene; patients with SMA for less than six months, two SMN2 copies, and…
When I was diagnosed with spinal muscular atrophy (SMA) at 11 months old, there was no cure or treatment. Vitamins, physical therapy, and respiratory exercises were used in the hope of slowing disease progression and maintaining physical abilities rather than improve health. Five…
The past two and a half years have seen a whirlwind of celebration in the world of SMA. What I consider one of the best gifts possible for families arrived on Dec. 23, 2016 when, for the first time ever, the FDA gave its approval to an SMA…
On May 24, Zolgensma (previously known as AVXS-101) became the second FDA-approved treatment for SMA. This gene therapy from pharmaceutical companies AveXis and Novartis is a major milestone for the SMA community, as it follows Biogen’s groundbreaking treatment Spinraza (nusinersen)…
Michael Noon, 42, says the thing he hates most about spinal muscular atrophy (SMA) is having to constantly ask other people for assistance. “I’m keenly aware of the physical help I need, and as I’ve gotten weaker over the years, that’s always been my internal struggle,” he said. “You…
Within a lifetime, spinal muscular atrophy has leapt from a disease “nobody knew anything about” to a treatable — albeit chronic and still rare — condition. It is an “amazing” and welcome advance, say people who have lived with SMA for more than 20 years. “I’m kind of in…
Bogdana Patrascu will never forget the day she learned that her then-3-year-old daughter, Alberta, had spinal muscular atrophy (SMA). The news came in a March 2016 phone call from Alberta’s pediatric neurologist, as Patrascu — a radiologist in Timisoara, Romania — was driving home from work. She had taken…
Treatment with the experimental oral therapy risdiplam has been enabling patients with spinal muscular atrophy (SMA) to achieve key development milestones and clinically meaningful motor improvements beyond the natural history of the disease. Susan Begelman, MD, vice president, Neurology, Nonmalignant Hematology, Influenza, U.S. Medical Affairs at Genentech,…
Early intervention is crucial for the successful management of spinal muscular atrophy (SMA), according to the authors of a review study that discusses the progress made in newborn screening and treatment strategies for this disease. The review study, “Progress in treatment and newborn screening for Duchenne…
Cure SMA and Parent Project Muscular Dystrophy (PPMD) have formed a strategic partnership with Prometheus Research to improve data collection and analysis for patients with spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD). Both U.S. nonprofit groups have developed notable patient registry initiatives in the past decade. The Cure…