Treatment with the experimental muscle-directed therapy apitegromab improved motor function for many of the children and young adults with types 2 and 3 spinal muscular atrophy (SMA) after one year in the Phase 2 TOPAZ trial. Trial results were presented at the 2022 annual meeting of the American…
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Loss of the survival motor neuron (SMN) protein changes the function of a type of brain immune cell called microglia, making them more prone to promoting inflammation and disease progression in spinal muscular atrophy (SMA), a new study reveals. The study, “Survival motor neuron protein deficiency…
A combined spinal muscular atrophy (SMA) therapy — one incorporating two treatments targeting different disease processes related to the SMN protein — showed improved efficacy over single treatments in a mouse model. The findings support further research into combination treatment strategies, the researchers said. A combined therapy could potentially…
The European Commission is expected to propose a new governing framework for health data next month, called the European Health Data Space (EHDS), with the aim of connecting national health systems to facilitate secure and efficient transfer of data across systems in different European nations. The move is expected to…
Researchers in Hong Kong have shared a case report about how they were inspired and humbled by a teenage girl with spinal muscular atrophy (SMA) who got through a difficult hospital stay while maintaining a hopeful spirit and never losing sight of her goals. “Although the life of children…
Electric Bike Technologies (EBT) will donate 20 of its Liberty Trikes this year to help children with limited abilities get exercise and enjoy bike rides with their family and friends. In addition to helping young people with spinal muscular atrophy (SMA), the active-mobility tricycles, which can be folded, will…
In a real-world study involving more than 40 Swiss patients with spinal muscular atrophy (SMA), Spinraza (nusinersen) was found to effectively improve motor function — particularly among younger children with SMA type 1. Older treated patients gained or stabilized their motor function, but infections prompted the need for ventilation and…
The National Organization for Rare Disorders (NORD) has updated its State Report Card to make it more digitally friendly and added telehealth to its categories of rare disease policy issues in a nod to its increased use during the ongoing COVID-19 pandemic. NORD’s report card project began seven…
As part of ongoing efforts to have all newborns in the U.K. screened for spinal muscular atrophy (SMA), Muscular Dystrophy UK (MDUK) recently met with an ad hoc Scottish group to hear from parents and clinicians about life with SMA and the benefits of early diagnoses. The meeting, hosted…
Novartis Gene Therapies is expanding its manufacturing capacity for Zolgensma (onasemnogene abeparvovec) — its disease-modifying gene therapy for spinal muscular atrophy (SMA) — after its commercial licensure approval was approved by the U.S. Food and Drug Administration (FDA). The approval will allow the company to produce, test and…
