Spinal muscular atrophy

Spanish clinicians report their experience with an unconventional injection route in the treatment of SMN1-related proximal spinal muscular atrophy (SMA) with nusinersen : six patients with SMA, including five with type II and one with type III, benefited from this treatment due to the impossibility of using the lumbar route, Five were over 18 years … [Read more]

Richard Finkel’s team (Memphis) has published the first case report of in utero treatment with risdiplam (Evrysdi®) for SMN1-related proximal spinal muscular atrophy, or SMA : an amniocentesis, carried out because of a history of the disease in the siblings, revealed in one foetus an absence of SMN1 with 2 copies of SMN2, i.e. type … [Read more]

A German team conducted a retrospective cross-sectional study of 75 patients to assess the course of neuromuscular scoliosis associated with SMA. a total of 75 patients were included in the analysis; 36.5% had type I SMA, 40.5% had type II SMA and 23% had type III SMA. all were treated with Spinraza®, Zolgensma® and Evrysdi® … [Read more]

As several clinical trials continue in SMN1-related proximal spinal muscular atrophy, new results have been shared. DEVOTE trial, testing higher doses (50/28 mg) of Spinraza than currently available (12 mg): clinical benefits of higher doses in patients already treated or treatment naïve. Motor neuron degeneration, which is reflected in the reduction of neurofilaments in plasma, … [Read more]

The American team at the Broad Institute in Boston (USA) has developed the SMA Finder, a new algorithm designed to identify SMA more easily from data generated by high-throughput sequencing (NGS): raw sequencing data from gene panels, exomes and whole genomes were collected by the Broad Institute in collaboration with the Estonian Department of Genetics … [Read more]

French researchers have studied the imaging of spinal and thigh muscles in patients with SMA before and after corrective spinal surgery: 20 patients with type II SMA participated in the study, two magnetic resonance imaging (MRI) scans of the areas of interest (thighs and spine) were performed before and after corrective spine surgery, five years … [Read more]

Practitioners at the Neuromuscular Reference Centre at the Henri-Mondor University Hospital (Créteil) report their real-life experience of treating six adults with SMA: four with type II SMA and two with type III SMA participated in this observational study, two had initially received intrathecal nusinersen and were then switched to risdiplam, the observation period varied between … [Read more]

Between June 2019 and June 2022, 95 children with treatment-naive type I SMA were identified in one of the 23 neuromuscular disease centres of reference. A study of ‘real-life’ data was carried out by a committee of French experts on 29 of these children, who were treated exclusively with Zolgensma®, with follow-up of at least … [Read more]

A transnational registry containing real-life data from patients with SMN1-related proximal spinal muscular atrophy (SMA) has been set up in Germany, Austria and German-speaking Switzerland: data from patients who had received onasemnogene abeparvovec gene therapy (Zolgensma®) were analysed, 343 patients with an average age of 14 months at the time of Zolgensma® administration were included … [Read more]

American clinicians report their experience of gene therapy treatment of two twins with proximal spinal muscular atrophy (SMA) who were born prematurely. The twins were born at 30 weeks and 2 days gestation due to a decelerated heart rate in one of the girls; they weighed 1560 and 1590 grams. Genetic analysis revealed no copy … [Read more]