Spinal muscular atrophy
RSS feedMixed results of gene therapy in two older children with SMA type 1
British clinicians report their real-life experience of two children who received onasemnogene replacement gene therapy abeparvovec (OA) at a later age than usual: these two children with type 1 spinal muscular atrophy had received nusinersen for several years and were aged 7 and weighed 20 kg at the time of the OA injection, in addition … [Read more]
Spinal cord organoids developed for SMA
In recent years, the development of organoids, small 3D structures that resemble the whole organ, has enabled us to understand how they develop and function. German researchers have developed spinal cord organoids in SMA, using patient-derived IPS cell lines. These spinal cord organoids show defects in early neurological development that could be responsible for the … [Read more]
A natural history of TRPV4-related hereditary neuropathies
The Inherited Neuropathies Consortium reports the clinical data of 68 patients with TRPV4-related neuromuscular disease (Charcot-Marie-Tooth 2C disease, scapuloperoneal spinal muscular atrophy and congenital distal spinal muscular atrophy) collected as part of a natural history study (NCT01193075) conducted in the United States, Italy and the United Kingdom. The age of onset of TRPV4-related hereditary neuropathies … [Read more]
Gene therapy and SMA: an update of European recommendations
A consortium of European experts has reviewed, four years apart, the use of AAV-based gene therapy in SMA: real-life data and feedback from neonatal diagnosis of SMA in many countries were taken into account in this update, 19 specialists from 17 European countries, including France, took part in the working group twelve proposals were discussed … [Read more]
Cognitive problems are common in children with SMA, even if they are treated early on
German clinicians looked at the frequency of cognitive impairment in a cohort of children with SMN1-related spinal muscular atrophy (SMA) type 1 who had received early treatment with one of the three innovative therapies available on the market: 20 children were included in the study, 19 of whom were symptomatic (up to 3 copies of … [Read more]
SMA: chronic pain is common, particularly in adolescence
Analysis of data from the Swiss neuromuscular disease register relating to 141 patients with SMN1-related proximal spinal muscular atrophy (SMA) shows that : 28 had type I SMA, 59 type II, 51 type III and three of undetermined type because they were treated in the asymptomatic phase; 48% of the 67 adults, 62% of the … [Read more]
Positive opinion from the HAS on the national expansion of newborn screening for SMA
AFM-Téléthon is delighted with the positive opinion issued by the French National Authority for Health (HAS) concerning the extension of neonatal screening for spinal muscular atrophy (SMA) to the entire French territory. This significant step forward is based in particular on the results of the Depisma pilot programme, launched in early 2023 by AFM-Téléthon in … [Read more]
Respiratory function in SMA patients treated with gene therapy
A growing number of infants diagnosed with spinal muscular atrophy (type I or type II) are benefiting from adeno-associated virus (AAV)-mediated gene therapy. Clinicians at the Necker-Enfants Malades hospital report on their respiratory progress: 15 infants (including one case of SMA type II) with a median age of 8.6 months (3.8 to 12.6 months) were … [Read more]
A meta-analysis of the efficacy and safety of the onasemnogen abeparvovec in SMA
Brazilian researchers have compiled data from the literature on one of three innovative drugs designed to treat children with type 1 spinal muscular atrophy (SMA1). The onasemnogene abeparvovec (Zolgensma®) is the first gene therapy product to have marketing authorisation for this indication: the authors selected four publications corresponding to three clinical trials (START, STR1VE-US and … [Read more]
Nusinersen does not prevent hip instability in SMA type II
Researchers in Hong Kong investigated the extent to which treatment with intrathecal nusinersen influenced the risk of bilateral hip dislocation, a complication very frequently observed in spinal muscular atrophy type II (SMA II) linked to the SMN1 gene : 10 children with SMA type II were included in the study, which ran for three and … [Read more]
