Many U.S. pediatricians fail to use developmental screening tools and are not familiar with the diagnostic requirements for spinal muscular atrophy (SMA), a study drawing on results of two surveys conducted by Cure SMAÂ reported. These findings, from responses given by hundreds of pediatricians, support a continuing need to…
New data about Zolgensma, the one-time gene therapy for children with spinal muscular atrophy (SMA), demonstrate age-appropriate development when used pre-symptomatically, and rapid, meaningful efficacy in symptomatic children, even those with severe disease before treatment, according to two Phase 3 clinical trials. The therapy, developed by Novartis, uses…
Novartis will initiate SMART, a Phase 3b clinical study to evaluate the safety and efficacy of the one-time gene therapy Zolgensma(onasemnogene abeparvovec) in young children with spinal muscular atrophy (SMA) who weigh 8.5 to 21 kilograms (about 18 to 46 pounds). Zolgensma is approved in the U.S.
Poorer oxygen update in muscle cells and greater fatigue was evident among ambulatory spinal muscular atrophy (SMA) patients relative to healthy people in an exercise-based study, suggesting that problems in cell energy production play a role in this disease. A better understanding of the…
Scientists have revealed the structural architecture of the SMN complex, which is altered in people with spinal muscular atrophy (SMA) due to a deficiency in the SMN protein. Their findings showed that many of the mutations that cause SMA are part of the central core of the SMN…
Parents of children with spinal muscular atrophy (SMA) reported different perspectives and concerns about Spinraza (nusinersen) therapy in an interview-based study, done to further understand the decision-making process involved in choosing whether to try the new treatment. The findings showed that, while many parents were focused…
Young adults with spinal muscular atrophy (SMA) exhibited thigh muscle decline despite stable strength and motor function over one year, a pilot study using quantitative MRI imaging demonstrated. The scientists said this non-invasive muscle imaging technique shows its potential as a…
Among children with neuromuscular disorders, those with spinal muscular atrophy type 1 (SMA 1) appear to be more vulnerable to more severe COVID-19 symptoms, a small study suggests. However, the course of disease in children with neuromuscular disorders overall may not be as…
Non-professional caregivers who care for children with spinal muscular atrophy (SMA) carry a high daily burden that negatively affects certain aspects of their lives, according to a questionnaire study conducted in Europe. Additionally, more severe disease was correlated with more time…
Direct medical costs associated with spinal muscular atrophy (SMA) are more than 50 times higher than those of matched control patients without SMA, according to a healthcare claims analysis. The primary driver of cost for infantile SMA cases was inpatient expenses,…
