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,…
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…
Lowering the expression of the EphA4 gene — a gene that plays a major role in many neurological disorders — is not enough to improve motor function and survival in a mouse model of severe spinal muscular atrophy (SMA), a study has found. The study, “Lowering EphA4 Does…
The impact of spinal muscular atrophy on daily life activities and the burden for caregivers should be added to tools currently used in clinical practice to measure health-related quality of life, a review suggests. The study, “A critical review of patient and parent caregiver oriented tools to assess health-related…
Adults with spinal muscular atrophy (SMA) type 2 and 3 tend to report a low prevalence of non-motor symptoms, a study finds. However, some of these symptoms, such as swallowing difficulties, falling, or swelling of the legs, are reported more frequently by people with SMA than…
Maximal voluntary isometric contraction testing (MVICT) may be a better outcome measure than the six-minute walking test (6MWT) in clinical trials involving people with spinal muscular atrophy who are able to walk without assistance, a study has found. The study, “Outcome measures in a cohort of ambulatory…
SRK-015, an investigational treatment designed to improve muscle strength and motor function in people with spinal muscular atrophy (SMA), interacts with its intended target in a dose-dependent manner, increasing by up to 100-fold the levels of latent myostatin in the blood, according to preliminary data from a Phase…
The levels of neurofilament heavy chain and tau — two proteins commonly used as biomarkers of nerve cell degeneration in several neurodegenerative disorders — may not be useful as biomarkers to evaluate neurodegeneration during the initial stages of treatment with Spinraza in people with spinal muscular atrophy (SMA) …
Physical exercise, including running and swimming, improved muscle energy metabolism in mice with milder forms of spinal muscular atrophy (SMA), a study has found. The results, “Low-Intensity Running and High-Intensity Swimming Exercises Differentially Improve Energy Metabolism in Mice With Mild Spinal Muscular Atrophy,” were published in…
Scientists have developed a fast, efficient and economical method to create viral delivery vectors used in gene therapy to deliver modified versions of genes to treat disorders caused by genetic defects, including spinal muscular atrophy (SMA). The findings were reported in the study, “Production of adeno-associated virus…
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