Investigators Discover Potential New SMA Genetic Modifier, Case Report Shows
Researchers have discovered a potential new genetic modifier that can influence the course and severity of spinal muscular atrophy…
Articles by Joana Carvalho, PhD
Fetal Gene Therapy May Ease SMA Symptoms, Prolong Survival, Mouse Study Shows
Gene therapy administered while newborns are still in the womb may lessen spinal muscular atrophy (SMA) symptoms and prolong…
Lowering EphA4 Gene Expression Has Limited Therapeutic Potential in Mouse Model of Severe SMA, Study Says
Lowering the expression of the EphA4 gene — a gene that plays a major role in many neurological disorders —…
Activities of Daily Living and Caregiver Burden Should be Included in Tools That Measure Quality of Life, Review Says
The impact of spinal muscular atrophy on daily life activities and the burden for caregivers should be added to tools…
Adults With SMA Tend to Report Low Prevalence of Non-Motor Symptoms, Study Finds
Adults with spinal muscular atrophy (SMA) type 2 and 3 tend to report a low prevalence of…
MVICT May Be Better, More Reliable Test Than 6MWT in Trials of Ambulant SMA Patients, Study Finds
Maximal voluntary isometric contraction testing (MVICT) may be a better outcome measure than the six-minute walking test (6MWT)…
SRK-015 Increases Myostatin Growth Factor Levels Up to 100-fold in SMA Patients, Early Trial Data Shows
SRK-015, an investigational treatment designed to improve muscle strength and motor function in people with spinal muscular atrophy…
ALS Biomarkers Not Useful in Assessing Neurodegeneration in SMA Type 3 Patients Receiving Spinraza, Study Suggests
The levels of neurofilament heavy chain and tau — two proteins commonly used as biomarkers of nerve cell degeneration in…
Physical Exercise Improves Energy Metabolism in Mice With SMA, Study Finds
Physical exercise, including running and swimming, improved muscle energy metabolism in mice with milder forms of spinal muscular…
Scientists Develop New Method to Produce High Quantities of Viral Vectors for Gene Therapy
Scientists have developed a fast, efficient and economical method to create viral delivery vectors used in gene therapy to…