Spinal muscular atrophy
RSS feedPrenatal diagnosis is sometimes complicated by the results of high-throughput sequencing.
A team from Dijon reports on a complex situation involving a consanguineous couple whose foetus carried adevelopmental anomaly known as cystic hygroma: a whole exome trio (WES-Trio) study was carried out prenatally to determine the origin, a homozygous truncating variant of the ASCC1 gene was identified, known to give a very rare form of spinal … [Read more]
TOPAZ trial of apitegromab in SMA
The TOPAZ trial tested the safety, tolerability and efficacy of the anti-myostatin apitegromab in SMA over one year in the United States and Europe (but not in France). The 58 participants, aged between 2 and 21 years, received apitegromab intravenously every 4 weeks for one year. The first cohort (open-label) included 23 participants with type … [Read more]
Language development is better in children with SMA treated at presymptomatic stage
Italian clinicians studied language skills in 36 children with type I spinal muscular atrophy (SMA), whether symptomatic (24/36) or not (12/36), and who had benefited from an innovative therapy: the 12 pre-symptomatic children were diagnosed as part of newborn screening, the 36 children had their communication skills, including language, assessed once or twice over time, … [Read more]
Sleep disordered breathing in slowly progressive myopathies: beyond alveolar hypoventilation
A French retrospective study of the records of 149 adults with an average age of 46.5 years and suffering from myotonic dystrophy (45) , myasthenia (20), Pompe disease (9), spinal muscular atrophy (8), facioscapulohumeral myopathy (8), Duchenne myopathy (5), Becker myopathy (1) or another neuromuscular disease (53) explored by respiratory polygraphy, nocturnal transcutaneous capnography and … [Read more]
New results from SMART trial with Zolgensma in proximal spinal muscular atrophy
Results from the one-year SMART trial with Zolgensma, the Novartis gene therapy product, were announced by Novartis via press release and presented at the Muscular Dystrophy Association (MDA) annual meeting: the trial involved 24 children with symptomatic SMN1-related proximal spinal muscular atrophy (SMA), aged between 1.5 and 9 years, weighing between 8.5 and 21 kg, … [Read more]
Treatment of adult patients with SMA decided in MDTs
In SMA, as the efficacy data collected on nusinersen and risdiplam have mainly concerned the pediatric population, there is as yet no consensus on treating adults. Between October 2020 and September 2021, the choice of treating adult patients with one of these two products was studied at several multidisciplinary team meetings (MDTs): the discussions involved … [Read more]
A new gene for Fazio-Londe syndrome?
Fazio-Londe syndrome (FL) and Brown-Vialetto-Van-Laere syndrome (BVVL), two very rare forms of bulbospinal muscular atrophy, have been considered until now as vitamin B2 transporter deficiencies, or riboflavinopathies. Iranian clinicians report an observation that tends to challenge this assumption: the patient, aged 25, had all the characteristics of a FL syndrome, with damage to pairs of … [Read more]
Zolgensma results from the RESTORE register in SMA
Sponsored by Novartis, the RESTORE registry collects data from patients with spinal muscular atrophy (SMA), in particular on one of three treatments (Zolgensma, Spinraza and Evrydsi). Data from 168 patients treated with Zolgensma from this registry were analyzed: patients were aged between 0 and 6 months at diagnosis, and treated between one and 10 months … [Read more]
A Franco-British study of spinal muscular atrophy not linked to chromosome 5q
Clinicians and geneticists from the Filnemus network, including members of the Institute of Myology, and from London pooled data from patients presenting with a picture compatible with spinal muscular atrophy, but where an SMN1 gene anomaly had been formally excluded: 71 patients from 65 families were included in the study, phenotypes were divided between proximal, … [Read more]
Zolgensma in children with type I SMA weighing over 13.5 kg
New real-life results for Zolgensma in 99 children with type I SMA, including 21 aged over 2 years and 7 weighing over 13.5 kg, collected from the six UK centres authorised to administer the gene therapy product, show : good tolerance of the product and its efficacy on motor function in older children (up to … [Read more]
