The stability and self-interacting ability of SMN, the protein that is abnormally low in people with spinal muscular atrophy (SMA), may affect disease severity in rare cases, a small study suggested. Based on their findings, the researchers said new treatment strategies “should be explored” to target these factors, and…
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Children with spinal muscular atrophy (SMA) type 1 who started treatment with Evrysdi (risdiplam) in the first months of life are continuing to gain motor skills after three years of treatment, according to new data from the FIREFISH trial. “These long-term results in babies treated with Evrysdi are very…
A surgeon at UC Davis Health has successfully performed the first hip replacement in a person — in this case, a 16-year-old girl — with spinal muscular atrophy (SMA). Before the surgery, the girl, named Malena, had pain and limited movement caused by arthritis that had developed between the…
Treatment with Spinraza (nusinersen) appears safe in infants and children with spinal muscular atrophy (SMA) who responded poorly to the gene therapy Zolgensma, early safety data from the first nine RESPOND trial patients show. Motor and lung function were the most common domains showing disease progression despite Zolgensma treatment in…
A Russian military plane crash near Tetiana Zamorska’s home in Kyiv, Ukraine, was a sign that it was time for her and her family to leave. The treacherous, 34-hour pilgrimage that ultimately brought the group of eight by car to temporary accommodations in neighboring Poland last month was physically and emotionally difficult,…
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…
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…
