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A child who barely moved in the womb in the final months before his birth and then had multiple bone fractures at birth was diagnosed with spinal muscular atrophy (SMA) type 0, researchers reported. The case study, “Type (0) spinal muscular atrophy associated with fractures at birth,” was…

Treatment with the experimental oral therapy risdiplam has been enabling patients with spinal muscular atrophy (SMA) to achieve key development milestones and clinically meaningful motor improvements beyond the natural history of the disease. Susan Begelman, MD, vice president, Neurology, Nonmalignant Hematology, Influenza, U.S. Medical Affairs at Genentech,…

Long-term results show Spinraza (nusinersen) is of unprecedented benefit to a broad range of spinal muscular atrophy (SMA) patients, said Wildon Farwell, executive director of clinical development at Biogen, which markets this approved treatment. With clinical development that spans “presymptomatic infants, to symptomatic infants, to symptomatic children,” Spinraza has “demonstrated…

With the U.S. Food and Drug Administration (FDA) expected to soon decide whether Zolgensma (onasemnogene abeparvovec) can treat people with spinal muscular atrophy (SMA) type 1, clinical trials of the gene therapy are showing rapid benefits across disease types. Those gains might justify a broader label — one allowing…

Patients of all ages with spinal muscular atrophy (SMA) will now be able to be treated with Spinraza (nusinersen) in England, after the…

Destiny McCalvin gave birth to her second child, a girl she named Kenzlee, after what she and her doctors took to be an uneventful pregnancy in 2011. “She seemed like a normal baby; she weighed 7 pounds 7 ounces, no issues,” her mother said. But “issues” soon became clear: “It…

With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been diagnosed. That’s the warning from Christopher P. Austin, MD, director of the National Center for Advancing Translational Studies (NCATS) at…

Treating adults with spinal muscular atrophy (SMA) with Spinraza (nusinersen) was safe and improved their muscle strength, and motor and respiratory function, among other benefits, according to preliminary research. While treatment with Biogen‘s Spinraza has been demonstrated to be beneficial in children and infants with SMA,…

Risdiplam continues to show promise as a therapy for individuals with spinal muscular atrophy (SMA) types 2 and 3, results from an ongoing Phase 2/3 trial show. Results from the study, “Update from SUNFISH Part 1: Safety, Tolerability and PK/PD from the Dose-Finding Study, Including…

Risdiplam (RG7916) can improve both survival and motor function in patients with type 1 spinal muscular atrophy (SMA) beyond that expected in the natural history of the disease, according to recent clinical data. These data were presented during the 2019 annual meeting of the American Academy of…