Patients with spinal muscular atrophy (SMA) who respond poorly to nusinersen may respond the most favorably to onasemnogene abeparvovec, according to a new study published in Gene Therapy. Alternatively, the age of the patient at the time treatment is started may influence his or her response to onasemnogene abeparvovec. These hypotheses must be tested in…
Combining 2 different neurological assessment tools could become an effective screening test for spinal muscular atrophy (SMA) in newborns, according to a new study recently published in the European Journal of Pediatrics. “Even in the absence of obvious clinical signs, a number of infants classically defined as presymptomatic, may have isolated minimal signs, such as…
Novel second-generation gene therapy is more efficient than the benchmark vector in a mouse model with spinal muscular atrophy (SMA), according to initial data presented at the American Society of Gene and Cell Therapy (ASCGT) annual meeting. More precisely, the new gene therapy extended the lifespan of the animals in a dose-dependent manner, restored their…
The safety profile of risdiplam (Evrysdi®) used by patients with spinal muscular atrophy (SMA) in an expanded access program (EAP) was found to be similar to that shown in pivotal risdiplam trials, according to a new study published in the Annals of Clinical and Translational Neurology. The study enrolled 155 pediatric and adult patients with…
Artificial intelligence may aid in predicting individual outcomes for patients with spinal muscular atrophy, according to a recent study using predictive models with XGBoost algorithm reports that was published in PLOS ONE. Patients with SMA experience worsening, improving, or no change in symptoms throughout their clinical course. Each individual’s clinical future depends on age as…
Patients with spinal muscular atrophy (SMA) may have deficiencies in specific cognitive abilities which may be affected by variables such as motor difficulties or sex, as published in a novel paper in the Neuromuscular Disorders journal. The study included 44 patients; half were patients with SMA type 3 and the other half were controls. They were assessed…
Researchers proposed a new way of classifying patients with spinal muscular atrophy (SMA) identified through newborn screening before any symptoms appear, based on clinical signs, and published their findings in a new commentary in Brain. Richard Finkel, MD, and Michael Benatar, MD, MS, PhD, envision 3 phases of the disease: clinically silent or premanifest SMA,…
Researchers investigated the mid- and long-term clinical outcomes of patients with spinal muscular atrophy (SMA) on nusinersen, onasemnogene abeparvovec, risdiplam, or combination therapies, and found that large amounts of data were missing, hampering their ability to adequately compare the drugs, as published in the European Journal of Pediatric Neurology. The introduction of disease-modifying therapies in…
Weakness in the hip abductor muscles and a lack of functional weight-bearing may contribute to hip displacement seen in patients with spinal muscular atrophy (SMA) and cerebral palsy (CP), according to a new study published in the Journal of Children’s Orthopaedics. Persistent proximal femoral lateral physeal tilt by head shaft angle was observed in both…
Recent research shows the long-term benefits and safety of risdiplam (Evrysdi®) use in both infants and adults with spinal muscular atrophy (SMA) type 1. A recent press release by Genentech shared new results from the FIREFISH study, which included 48 patients aged 1 to 7 months who were previously diagnosed with type 1 SMA. The…
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