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…
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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…
A single administration of Zolgensma continues to extend the survival of patients with spinal muscular atrophy (SMA) type 1 while halting motor neuron loss several years after dosing, according to long-term clinical data. Zolgensma, developed by AveXis — later purchased by Novartis in 2018 — is a one-time treatment intended…
Spinal muscular atrophy (SMA) treatment with Biogen’s Spinraza (nusinersen) has resulted in motor milestone achievements in line with normal motor development and continues to provide benefit to infants who began receiving the treatment in a presymptomatic stage of the disease, according to interim clinical trial results. The study, “…
Treatment with Spinraza (nusinersen) results in greater improvements in motor function and continues to improve or stabilize motor function scores in spinal muscular atrophy (SMA) patients, according to recent clinical data. The findings were presented during the 2019 American Academy of Neurology (AAN) Annual Meeting, being…
Treatment of presymptomatic babies with the investigational gene therapy Zolgensma provides rapid improvement in motor function in infants with spinal muscular atrophy (SMA) types 1, 2 and 3, according to preliminary results of a Phase 3 trial. The study, named SPR1NT (NCT03505099), is enrolling participants…
Type 2 patients with spinal muscular atrophy (SMA) given the gene therapy Zolgensma via spinal canal injection are showing no safety concerns so far and notable motor milestones, early results of a Phase 1 trial report. Based on these interim but promising data, AveXis anticipates a request being made for the…
