Because babies with type 1 spinal muscular atrophy (SMA) develop serious swallowing problems at different ages, the decision to switch from oral to tube feeding should be tailored for each child, researchers in South Korea suggest. Their study, “Trajectory of change in the swallowing status in…
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Kevin Schaefer hadn’t been in an airport since he was 4 years old, so he had been looking forward to flying from his home in Cary, North Carolina, to Anaheim, California, in June for the 2019 Cure SMA Conference. As it turned out, his experience didn’t go as expected.
Researchers in China report having developed a method that was fast, effective, and reliable in newborn screening (NBS) for spinal muscular atrophy (SMA). The results, “Newborn Screening for Spinal Muscular Atrophy in China Using DNA Mass Spectrometry,” were published in the journal Frontiers in…
Genentech announced, without providing details, positive topline results from the pivotal second part of its FIREFISH clinical trial of risdiplam, now before the U.S. Food and Drug Administration for approval. The company said in its release that risdiplam demonstrated statistically significant and medically meaningful motor milestone improvement…
Researchers have discovered a potential new genetic modifier that can influence the course and severity of spinal muscular atrophy (SMA), according to a recent case study. The findings may help shed light on how two members of the same family may be affected by different forms of the disease,…
A panel of experts has developed a new treatment algorithm for infants diagnosed with spinal muscular atrophy (SMA) via newborn screening, a study reports. Such newborn screens are vital because outcomes for SMA improve dramatically if therapy begins within the first few days of life, the…
Analysis of the protein levels in the cerebrospinal fluid (CSF) of people with late-onset spinal muscular atrophy (SMA) may help to identify biomarkers that not only monitor but also predict Spinraza responses, a study suggests. The results of the study, “Cerebrospinal fluid proteomic profiling…
Spine surgery using magnetically controlled growing rods (MCGR) may be an option to correct spinal deformity, or scoliosis, in young children with spinal muscular atrophy (SMA) and avoid the need for repeated surgeries…
Roche has kicked off a worldwide early access program for its experimental therapy risdiplam by making it available to Europeans with the most serious forms of spinal muscular atrophy (SMA). Europeans with SMA type 1 will be able to get it immediately, Roche told SMA News…
Gene therapy administered while newborns are still in the womb may lessen spinal muscular atrophy (SMA) symptoms and prolong survival, a mouse study shows. The study, “Fetal Gene Therapy Using a Single Injection of Recombinant AAV9 Rescued SMA Phenotype in Mice,” was published in the journal Molecular…
