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Risdiplam continues to sustain high levels of the SMN protein and improve motor function in children and young adults with spinal muscular atrophy (SMA) types 2 and 3, two-year data from the first part of the SUNFISH trial show. It also safely and effectively raises SMN levels in patients previously…
Spinraza (nusinersen) continues to safely and effectively stop disease progression in children with spinal muscular atrophy (SMA) who were treated before 6 weeks old and symptom onset, according to updated data from the NURTURE trial. With up to nearly five years of continuous treatment, all these children…
A readiness program to help clinical trial sites prepare to run spinal muscular atrophy (SMA) studies has been established by Cure SMA in collaboration with the pharmaceutical industry, other patient advocacy groups, and research institutes. The program is described in a position statement, “The SMA…
The Black Women’s Health Imperative (BWHI) recently created a Rare Disease Diversity Coalition focused on reducing racial disparities in the rare disease community. Getting a timely and accurate diagnosis for a disease that few people — sometimes even physicians — have heard of is challenging on its own merit.
Siblings of people with spinal muscular atrophy (SMA) who do not have the disease themselves tend to learn about it gradually over time from both their parents and external sources, a study shows. Findings from interviews with families affected by SMA highlight the importance of parents discussing the…
Adults with spinal muscular atrophy (SMA) can now receive treatment with Spinraza (nusinersen) at three new sites in England. With the addition of these centers, there are now 11 National Health Service Foundation Trust sites across the country that offer the disease-modifying therapy developed by…
Full-scale recruitment for an AUD$20 million (about $13.9 million U.S.) nationwide study to screen for severe genetic conditions has begun in Australia. Following the results of a pilot program that tested 60 couples, the current study seeks to screen 10,000 volunteer couples for genetic variants that raise their risk…
A better understanding of the needs of adults with spinal muscular atrophy (SMA), best ensuring for their mental and social — as well as physical — well-being, is necessary to guide future research, care recommendations, and policy decisions, a review study states. Among its findings was strong support for treatments…
Adopting image-guided techniques may help physicians lower the risks of complications associated with the administration of Spinraza (nusinersen) in patients with spinal muscular atrophy (SMA), a study has found. Physicians caring for these patients should be familiar with the different techniques and possible complications of treatment administration,…
While the ongoing COVID-19 pandemic won’t have much of an impact on cash available for new biotech startups, it has begun to cause delays in the development of gene therapies to treat a variety of rare diseases. That’s the consensus of industry experts who spoke in a May 26…
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