Spinal muscular atrophy
RSS feedPositive results from the Phase III SAPPHIRE trial with apitegromab in SMA
Apitegromab is a human monoclonal antibody that selectively inhibits myostatin activation to improve muscle function. Its efficacy was evaluated at one year in the Phase III SAPPHIRE trial, which included 188 patients with type II or III SMA who were non-ambulatory, aged 2 to 21 years, and already receiving treatment targeting the SMN protein (Spinraza … [Read more]
Evrysdi, reimbursed for presymptomatic SMA
According to the publication in the Official Journal of 13 January 2026, the conditions for reimbursement of Evrysdi (Risdiplam) in oral solution form have been extended to include presymptomatic children. They now apply to a wider range of patients: patients with a clinical diagnosis of SMA type I, II and III, presymptomatic patients with 1 … [Read more]
A new protocol for treatment with high-dose nusinersen arrives in Europe
While nusinersen is currently administered at a dose of 12 mg intrathecally, a new treatment device with higher doses (50 mg and 28 mg) has just been authorised by the European Commission. This follows the results of the DEVOTE trial, which showed a significant improvement in motor function in participants with proximal spinal muscular atrophy … [Read more]
The French model for multidisciplinary team meetings in SMA
With the arrival of three innovative treatments (Spinraza, Zolgensma and Evrysdi), multidisciplinary team meetings (MTM) were set up in France in 2017 and then rolled out nationwide in 2019 to define the best treatment strategy for children who have just been diagnosed with SMA or who do not yet have treatment. The main features of … [Read more]
GC101 gene therapy shows encouraging results in type II and III SMA in nine patients
While Zolgensma gene therapy is only indicated for children weighing less than 21 kg with type I SMN1-related proximal spinal muscular atrophy (SMA) or who carry a biallelic mutation of the SMN1 gene and a maximum of three copies of the SMN2 gene, a Chinese team has tested a new gene therapy, GC101. Like Zolgensma, … [Read more]
Limited interest in measuring CMAP in adults with SMA
German clinicians report the results of a multicentre observational study evaluating adults with SMA receiving nusinersen treatment: 78 patients, including 51 non-ambulatory patients, participated in the study, the measurement of motor action potential (CMAP) in two nerves of the upper limbs (ulnar and median) was chosen as the primary endpoint, measurements were taken every 4 … [Read more]
Gene therapy for SMA, available in the United States for patients of any age
A new indication for gene therapy in proximal spinal muscular atrophy (SMA), involving a single intrathecal injection of Itvisma, has just been approved by the FDA (Food and Drug Administration) for patients over the age of two only. This follows positive results from the STRENGTH and STEER Phase III clinical trials, which showed stabilization or … [Read more]
Few swallowing disorders in children with SMA treated at a presymptomatic phase
A consortium of clinicians from the United States, New Zealand and Brazil reports the results of a study aimed at investigating bulbar function in infants with type I proximal spinal muscular atrophy, whether symptomatic or not: 69 infants under twelve months of age were included in this retrospective study, 17 of whom had received innovative … [Read more]
Gene therapy appears to be more favourable than nusinersen in symptomatic type I SMA, according to an initial comparative analysis by the French SMA Registry.
Based on data from 309 patients listed in the SMA France Registry and suffering from type I proximal spinal muscular atrophy (SMA), French clinicians conducted an initial comparative study of nusinersen (Spinraza) and gene therapy (Zolgensma) as first-line treatments. Data on the motor, respiratory and nutritional functions of 24 children, 12 treated with gene therapy … [Read more]
A useful electrophysiological score in gene therapy for SMA
French clinicians report their experience with measuring compound muscle action potentials (CMAP) in infants with symptomatic SMA who have received gene therapy (onasemnogene abeparvovec): 19 infants with SMA, including 12 with two copies of the SMN2 gene, were included in the study, their CMAPs were measured at several nerves (median, ulnar, peroneal and tibial) at … [Read more]
