Treatment of presymptomatic babies with the investigational gene therapy Zolgensma provides rapid improvement in motor function in infants with spinal muscular atrophy (SMA) types 1, 2 and 3, according to preliminary results of a Phase 3 trial. The study, named SPR1NT (NCT03505099), is enrolling participants…
Type 2 patients with spinal muscular atrophy (SMA) given the gene therapy Zolgensma via spinal canal injection are showing no safety concerns so far and notable motor milestones, early results of a Phase 1 trial report. Based on these interim but promising data, AveXis anticipates a request being made for the…
Long-term treatment with Biogen‘s Spinraza (nusinersen) showed clinically meaningful improvement in the motor function of children ages 2 to 15 with late-onset spinal muscular atrophy (SMA), trial data shows. Spinraza restored motor function and stabilized disease activity over long periods of time in children with type…
Learning that spinal muscle atrophy was the reason her 15-month-old son couldn’t do what others his age could was a “gut-wrenching” moment, Kristen Farrell recalled in a recent webcast hosted by Biogen. But, as Braeden turned 2, a clinical trial opened for a potential SMA treatment — known then only…
Cumbersome security procedures, rising airfares, and shrinking legroom have made commercial air travel difficult enough these days — even for healthy passengers. Imagine how much harder it is for patients with rare diseases who must get to doctors’ appointments or clinical trials that are hundreds of miles away from home.
The Canadian province of Saskatchewan has joined that of Quebec in granting access to Spinraza (nusinersen) therapy to a wider range of people with spinal muscular atrophy (SMA), Biogen Canada announced in a press release. Only those with type 1 SMA, the disease’s most severe form, had access to Spinraza.
High-intensity training can improve fitness and may be performed safely by patients with spinal and bulbar muscular atrophy (SBMA), a small pilot study suggests. According to patients, high-intensity training (HIT) did not increase their muscle fatigue and was preferred to other workouts. Although more studies are needed to understand the long-term…
Parents of children with neuromuscular diseases who are prescribed wheelchair use should be involved in this process and receive psychological care and social support to facilitate transition to wheelchair equipment, according to a recent study. The study, “It’s not just the wheelchair, it’s everything else”: Australian parents’ perspectives of wheelchair prescription…
With an estimated 1.37 billion inhabitants, India will likely surpass China in five years as the world’s most populous country. That also means it will have more rare-disease patients than any nation. It already has more than twice as many as the 28-member European Union. Harsha K. Rajasimha, a genomics…
A global dysregulation affecting multiple signaling cascades operating inside motor neurons may be the underlying cause of spinal and bulbar muscular atrophy (SBMA), results of a mouse study reveal. The findings of the study, “Gene expression analysis reveals early dysregulation of disease pathways and links Chmp7 to pathogenesis of…
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