The U.S. Food and Drug Administration (FDA) is updating its 2015 draft guidelines for drug discovery in rare diseases, with new guidance on natural history — how disorders such as spinal muscle atrophy (SMA) run their course if untreated — the choice of “efficacy endpoints” in clinical…
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A research team in Korea created an in vitro, or laboratory, model to screen and validate medicines that aim to treat spinal muscular atrophy (SMA) by promoting protein production by the SMN2 gene. The system is based on the use of a special cell line as well as stem cells…
The American Society of Gene and Cell Therapy (ASGCT) has unveiled a new online resource designed to keep patients, caregivers, and the public apprised of the latest in gene and cell therapies, including those intended for spinal muscular dystrophy (SMA). Gene Therapy 101 is the organization’s debut…
The U.S. Food and Drug Administration approved the six-minute walk test (6MWT) as an acceptable primary endpoint, or goal, for a potential registration program of the investigational treatment reldesemtiv for spinal muscular atrophy (SMA) patients who are able to walk. In the feedback provided to therapy developer Cytokinetics, the agency…
Measuring the levels of proteins known as neurofilaments, and tau in the cerebrospinal fluid of infantile-onset spinal muscular atrophy (SMA) patients can be used as biomarkers to monitor the effectiveness of Spinraza (nusinersen), a case report shows. The case study, “Neurofilaments and tau in CSF in an infant with…
Researchers from the University of Milan developed a new method to evaluate the nutritional status of children with spinal muscular atrophy (SMA). The pilot study, which is part of a larger longitudinal study designed to monitor the growth of children with SMA, contains a procedural manual with…
Dozens of films have focused on those with diseases or disabilities — and there’s no shortage of Hollywood productions about love and sex. But only a handful have ever really tried to combine these two themes. “Take a Look at This Heart” does the job with tenderness and finesse.
The sense of fatigue perceived by patients with spinal muscular atrophy (SMA) does not correlate with their physical tendency to get tired, their motor function, or quality of life, a study reports. According to this…
Optimal care of children with spinal muscular atrophy (SMA) requires improving competence and an adequate exchange of knowledge among healthcare professionals, as well maintaining a close dialogue with the family, according to a study reporting on the experiences of Swedish and Danish parents. The study, “Bereaved…
Several key factors influence how and why some patients and their families may be hesitant to pursue, or decide to forego, Spinraza (nusinersen) treatment, a study has found. These considerations include side effects, high cost, insurance coverage, and a lack of data on the therapy’s effectiveness. By addressing these…
