Spinal muscular atrophy
RSS feedNew 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]
The cost of neonatal screening for SMA
Researchers have studied the cost-benefit ratio of newborn screening (NBS) for SMA, which has been in place in Belgium for the past five years, by comparing children who were treated and monitored over a 30-month period: the children could have received treatment either following screening or because they were symptomatic, although the costs (direct and … [Read more]
Despite neonatal screening, neurodevelopmental disorders are reported in some SMA patients
The experts in charge of setting up newborn screening for spinal muscular atrophy (SMA) in Germany have warned of a number of cases of developmental disorders in children despite very early treatment with innovative therapies : 47 children from 49 families were screened between January 2018 and December 2020 for spinal muscular atrophy (SMA) and … [Read more]
Quantitative muscle imaging could be useful in assessing the impact of nusinersen in SMA
Dutch researchers have tested magnetic resonance imaging (MRI) of muscles as a possible tool for measuring the effectiveness of treatment of SMA with nusinersen (Spinraza) : eight treated children aged 9 years on average took part in the study, four with type 2 SMA and four with type 3 SMA, three complementary MRI techniques were … [Read more]
Proper use of paracetamol prescriptions in SMA
Following problems of drug intolerance in patients with SMA who had received paracetamol for pain relief, Danish researchers undertook a pharmacokinetic study: six children and six adults with SMA were included and compared with eleven healthy subjects, all were given paracetamol at the usual recommended doses, repeated serum determinations of several paracetamol metabolites and hepatic … [Read more]
