News

Even when given to young children with spinal muscular atrophy (SMA) at ages older than 6 months, the gene therapy Zolgensma (onasemnogene abeparvovec) can improve motor function, an analysis of real-world data show. Indeed, more than 70% of babies treated between 6 and 24 months had better scores…

Treatment with Evrysdi (risdiplam) continues to be safe and well tolerated in people with spinal muscular atrophy (SMA) who have previously received other therapies for SMA, according to one-year data from the JEWELFISH clinical trial. Results also suggest that motor function has been stable in JEWELFISH participants after a…

Patient registries are a hot topic of rare disease research and many organizations are taking advantage of this resource by signing up their patient communities and connecting with researchers. Eric Sid, MD, program officer for the Office of Rare Diseases Research (ORDR), said it is difficult to estimate how…

Children and young adults with spinal muscular atrophy (SMA) types 2 and 3 continue to report improved or stabilized motor function after three years of treatment with oral Evrysdi (risdiplam) in the SUNFISH clinical trial. “The positive long-term efficacy and safety results for Evrysdi in this broad SMA population…

Most children with spinal muscular atrophy (SMA) who were presymptomatic and treated with Spinraza (nusinersen) in the NURTURE clinical trial are hitting major motor milestones within developmentally normal windows, new data show. “It’s only getting better. It’s spectacular,” Thomas Crawford, MD, from Johns Hopkins Medical Institute, said in…

Unlike in Australia, the U.S., and even several EU countries, there have been no programs for newborn screening for spinal muscular atrophy (SMA) in the United Kingdom — despite compelling evidence that an early diagnosis can improve patient outcomes. Now, Oxford University in the U.K. has launched a pilot study…

Treatment with Spinraza (nusinersen) stabilized or improved motor abilities in children and adults with spinal muscular atrophy (SMA) regardless of interruptions in physiotherapy due to the COVID-19 pandemic, a small and single-site study suggests. These findings add to the large body of evidence supporting Spinraza’s benefits in SMA patients,…

Respiratory muscle strength is more severely affected in people with earlier-onset forms of spinal muscular atrophy (SMA), but it generally declines over time across SMA types 1 to 3, according to data from a population-based natural history study. One of the measures of respiratory strength, peak expiratory flow, was found to…

Horizon Therapeutics has launched its #RAREis Representation program aimed at increasing diversity, equity, and inclusion among patients with rare diseases. There are about 400 million people worldwide living with a rare disease; for many of them, access to diagnosis, care, and treatments can be challenging. Accessing better care depends on…

Blood biomarker levels of muscle damage — rather than nerve cell damage — are significantly altered in people with a rare form of adult-onset spinal muscular atrophy (SMA) called the Jokela type (SMAJ), according to a study in Finland. Also, the levels of creatinine, a biomarker of muscle mass,…