Spinal muscular atrophy

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]

French clinicians report the development and results of a follow-up protocol for infants with SMA treated with gene therapy (onasemnogene abeparvovec or Zolgensma®): 23 children with SMA, including 19 with type I, 3 with type II and one presymptomatic, were included in this observational study, a device was used to calculate the inertial measurement units … [Read more]

An international consortium of clinicians with expertise in SMA reports new natural history data in this disease: the study population consisted of 226 patients with SMAII and 162 with type III, from five countries (Belgium, Italy, Spain, the United States and the United Kingdom), change over time in the Hammersmith Modified Functional Scale (HFMSE) was … [Read more]

The UK SMA REACH consortium is reporting its experience in treating infants with SMA with abeparvovec onasemnogene (OA, Zolgensma®): 93 babies with type 1 SMA received this treatment between March 2021 and December 2022 at 16 centres across the UK, only 75 cases could be accurately documented, all had type 1 SMA and were treated … [Read more]