Treatment with a high-dose regimen of Spinraza (nusinersen) was shown to safely improve motor function in children with spinal muscular atrophy (SMA) in the Phase 2/3 DEVOTE clinical trial. Most patients who switched from the originally approved dose to the high-dose regimen experienced improvements in motor function scores,…
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The case of a 51-year-old man ultimately diagnosed with spinal muscular atrophy (SMA) type 4 is believed to mark the first time this form of the rare genetic disease has had as its main symptom a false enlargement of the large muscle on the back of the lower leg. In…
Women with spinal muscular atrophy (SMA) can experience successful pregnancies and give birth to healthy babies when supported by specialist, team-based care, according to a U.K. case series. The report followed eight pregnancies in six women with SMA, all of which resulted in the birth of healthy babies —…
A rapid test using zebrafish was able to show that two children identified by genetic testing as possibly having spinal muscular atrophy (SMA) did not actually have the progressive disease, according to a new study. This finding, the researchers say, shows how these tiny fish — which have long been…
Treatment with gene therapy significantly prolonged survival and improved motor function in a mouse model of spinal muscular atrophy with respiratory distress type 1 (SMARD1), researchers report. The gene therapy tested in this lab study is now being evaluated in a small U.S. clinical trial (NCT05152823) involving children…
Children with spinal muscular atrophy (SMA) frequently develop what are known as musculoskeletal deformities, or bone and muscle-related problems that include scoliosis, a sideways curvature of the spine, and hip dislocations, according to a new study from China. The researchers found that these problems often persisted or worsened over…
For babies diagnosed with spinal muscular atrophy (SMA) before birth, doctors may be able to plan an early delivery so the baby can start treatment within days instead of waiting for a full-term birth. In a new case report, doctors used this approach for a baby girl with SMA.
Spinal muscular atrophy (SMA) affects the nervous system — essentially, the body’s command center, where nerves transmit signals that coordinate actions, senses, and bodily functions — more profoundly than previously thought, a new study suggests. Although it’s been established that SMA is marked by problems with motor neurons, the…
Higher levels of the glial fibrillary acidic protein (GFAP) in the fluid around the brain and spinal cord are associated with a better clinical response to Spinraza (nusinersen) among people with spinal muscular atrophy (SMA), according to a recent study in Turkey. Researchers analyzed whether levels of proteins derived from…
The European Commission has approved a new high-dose regimen of Spinraza (nusinersen) for people with 5q spinal muscular atrophy (SMA). “We are proud to introduce the high dose regimen of SPINRAZA, which we have developed to address the evolving needs of individuals living with SMA, and are deeply…
