Magdalena Kegel,  —

Children with spinal muscular atrophy (SMA) type 1, who likely would have died before age 2 only a few years back, were seen  to walk after being treated with Spinraza (nusinersen). This approved therapy, and others with the potential to one day be a treatment option — like a…

Spinraza (nusinersen) may provide more benefits to infants with spinal muscular atrophy (SMA) if the treatment is started early, Biogen reported during presentations at the ongoing 22nd International Congress of the World Muscle Society in St. Malo, France. But the treatment can also provide benefits to SMA patients…

Novartis will resume clinical development of branaplam to treat spinal muscular atrophy after a two-year pause brought on by safety concerns, the Swiss company announced in a letter published by Cure SMA. The ongoing clinical trial will start enrolling patients as soon as the research team obtains approvals by health authorities and the ethics committee. The study recruits infants younger than six months with type 1 SMA. All will receive branaplam, the name Novartis chose for its compound when reopening clinical investigations. While the study originally only included four European study centers — in Belgium, Germany, Denmark and Italy — Novartis said it plans to add more sites including some in the United States, following a green light from the U.S. Food and Drug Administration (FDA). The branaplam clinical trial halted new enrollments in May 2016 after simultaneous animal studies linked branaplam to unexpected nerve damage and other injuries. Infants already enrolled continued treatment and have been closely monitored. Novartis has worked with outside experts to understand the meaning of the animal findings. The fact that enrollment has resumed signals that Novartis — which has not commented on its relevance — no longer perceives the animal data as an immediate patient hazard. Besides resuming recruitment, the company has modified its trial design after considering feedback from the babies’ parents and study investigators. For instance, infants can now receive their weekly dose of branaplam orally, instead of via a feeding tube, which was the only option when the trial started. The company also added nerve tests to the trial as an additional safety procedure. As clinical development of branaplam continues, Novartis is also working with regulators to expand drug testing to include patients with other types of SMA.

Spinal muscular atrophy (SMA) experts and patient representatives concede they have a long way to go in updating a consensus document on SMA standards of care. Their report, “218th ENMC International Workshop: Revisiting the consensus on standards of care in SMA, Naarden, The Netherlands, 19-21 February 2016,” recently appeared in the…

Roche has started enrolling infants with spinal muscular atrophy (SMA) type 1 in a Phase 2 trial of its SMN2-targeting therapy RO7034067, following positive early results from a similar and ongoing study of the compound in older children with type 2 and 3 SMA. The FIREFISH trial (NCT02913482),…

Quest Diagnostics has launched a new screening test to assess the possibility that parents carry genes that might cause spinal muscular atrophy (SMA) and a range of other diseases in their future children. The test, called QHerit, takes into account that people today often have a mixed ethnic…

A lack of familiarity with spinal muscular atrophy (SMA) type 1 among primary health care staff often makes caring for infants with the disease a stressful experience for families, finds a study that explored how parents perceived various care settings, including emergency, hospitals and clinical care. The study, “The Experience…

Infants with Spinal Muscular Atrophy (SMA) who do not yet show symptoms experience numerous benefits from Spinraza (nusinersen) treatment, according to data that Biogen will present at the Cure SMA 2017 Annual Conference in Orlando, Florida on June 29 to July 2. Among the host of presentations that the company…

Scholar Rock will start clinical trials of its spinal muscular atrophy therapy SRK-015 after studies in primates and mice showed that it helps improve muscle capacity and strength. The company will present the results of the preclinical-trial studies at the Cure SMA Annual Conference in Orlando, which started today and…

In the United Kingdom, the SMA Trust is working to promote research and development of new treatments for spinal muscular atrophy (SMA). By providing funding and bringing together researchers, patients, healthcare professionals, and pharmaceutical industry representatives, it strives to accelerate research that might bring solutions to patients. In a…