EXG001-307, an investigational nerve cell-targeting gene therapy being developed by Exegenesis Bio, was well tolerated and helped a small group of young children with spinal muscular atrophy (SMA) type 1 to better control their heads and sit up on their own. That’s according to new data from a…
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Twenty-six children were diagnosed with spinal muscular atrophy (SMA) in Russia through a 2022 pilot program, out of nearly 203,000 newborns who were screened for the rare genetic disease. That’s according to a study, “Epidemiology of Spinal Muscular Atrophy Based on the Results of a Large-Scale…
SMN-K186R, a modified version of the SMN protein that is deficient in people with spinal muscular atrophy (SMA), was more effective than normal SMN when delivered by gene therapy, a mouse study demonstrated. Treatment with lower doses of the modified SMN gene therapy, to reduce liver-related toxicity seen…
A program designed to provide data and tools for people with spinal muscular atrophy (SMA) identified through newborn screening (NBS) can help families and clinicians engage with public health agencies and ensure the best possible outcomes, a study found. The Long-Term Follow-up Cares and Check Initiative (LTFU-Cares and…
A girl with spinal muscular atrophy (SMA) undergoing surgery to correct scoliosis, an abnormal sideways curvature of the spine, experienced a severe drop in blood pressure and oxygen levels due to the position of the surgical table, according to a case study. The tilt of the table that…
Levels of certain molecules in cerebrospinal fluid (CSF) — the liquid that surrounds the brain and spinal cord — may help researchers distinguish between different types of spinal muscular atrophy (SMA), a study suggests. The study, “Metabolomics of cerebrospinal fluid reveals candidate diagnostic biomarkers to distinguish…
An early spinal muscular atrophy (SMA) diagnosis with the help of a newborn screening program, and treatment with disease-modifying therapies before symptom onset, may prevent the development of SMA symptoms, according to a new study in Italy. The study found that children born without symptoms who started treatment shortly…
More high-quality studies are needed to understand the mechanisms of fatigue in spinal muscular atrophy (SMA) and to identify which, if any, SMA therapies or interventions might be able to truly ease the common but often troublesome symptom. That’s according to a new review study that found that…
An 8-month-old girl with a clinical and genetic diagnosis of spinal muscular atrophy (SMA) type 1 saw her condition improve after starting treatment with Evrysdi (risdiplam), according to a recent case reported in China. Specifically, the treatment improved the girl’s muscle tone and head control as well…
A novel monitoring tool called MScanFit may be a reliable way to assess the health of nerve and muscle cells in people with spinal muscular atrophy (SMA), a new study found. “This study demonstrated that MScanFit is feasible for the assessment of SMA patients,” the scientists wrote, noting the…
