The U.S. Food and Drug Administration (FDA) has granted priority review to Novartis’ Biological License Application (BLA) asking that Zolgensma (onasemnogene abeparvovec-xxxx) — previously called AVXS-101 — be approved as a gene therapy for spinal muscular atrophy (SMA) type 1. Its request is reported to specifically cover intravenous…
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Administration of Spinraza (nusinersen) directly into the spinal canal is feasible and well-tolerated by adults with spinal muscular atrophy (SMA) type 2 or 3. Still, such treatment can be challenging for SMA type 2 patients and those who have had spinal fusion, a study shows. The study,…
Scholar Rock has announced the publication of new preclinical data supporting the potential therapeutic value of its experimental candidate therapy, SRK-015, in improving muscle function and strength in patients with spinal muscular atrophy (SMA). The study, “Specific inhibition of myostatin activation is beneficial in mouse models of…
The use of a robotic arm controlled by electrical impulses in the arm muscles may increase the independence of paralyzed spinal muscular atrophy (SMA) patients, according to a recent case report. The case report, “Functional Tasks Performed by People with Severe Muscular Atrophy Using an sEMG Controlled…
Danyelle Sun, a Milwaukee mother of two children with spinal muscular atrophy (SMA), says Biogen’s Spinraza (nusinersen) has rescued both her kids from potentially lifelong disabilities. Sun, 35, is the Wisconsin state ambassador for NORD, the National Organization for Rare Diseases. Her 7-year-old daughter, Ruby, has SMA type 3,…
Researchers from the University of North Carolina have described 14 different fruit fly models that mimic all the types of spinal muscular atrophy (SMA) seen in patients. These include SMA type 4, also known as adult-onset SMA, which has been particularly hard to replicate in other animal models…
Researchers have developed a rapid, specific blood test to screen newborns for spinal muscular atrophy (SMA) and identify carriers — those who do not have the disease but can pass it on to their children. The study, “Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier…
LMI070 (branaplam), a candidate oral therapy under development by Novartis, is being tested in a Phase 1/2 clinical trial for infants with spinal muscular atrophy (SMA) type 1. A recent study describes how the compound was discovered from a large screen for SMN2…
A non-invasive electrophysiology technique called motor unit number index, or MUNIX, can effectively assess the loss of motor nerve cells and muscle impairment in adults with spinal muscular atrophy (SMA) types 3 and 4, a study in patients reports. The study “The motor unit number index (MUNIX) profile of…
A new gene of unknown function, called FAM135B, is expressed at lower levels in a cellular model of spinal and bulbar muscular atrophy (SBMA) and is thought to play a role in supporting spinal motor neurons’ growth and survival, a study found. The study, “Phenotypic and molecular features underlying neurodegeneration of…
