Spinal muscular atrophy

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]

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]

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]

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]

Clinicians from the French network of neuromuscular disease specialists followed a cohort of 37 children treated with nusinersen (Spinraza) between the ages of 2 months and 3 years for three years. The motor functions of these patients, now aged between 3 and 6, improved. Motor development was greater in children with three copies of the … [Read more]

Jokela spinal muscular atrophy (JSMA), named after one of the researchers who identified it, is an ultra-rare variant of SMA not linked to 5q, with a higher prevalence in Finland: the clinical and biochemical data of 11 Finnish patients were compared with those of 26 patients with mitochondriopathies and 28 healthy subjects, all underwent a … [Read more]

Chinese researchers have gone through the data published by the American FDA with great care concerning the clinical and biological safety of three drugs commonly used in the treatment of proximal spinal muscular atrophy linked to the SMN1 gene (SMA): these researchers used a Venn-type comparative method based on data from the FDA’s pharmacovigilance system, … [Read more]

British researchers have developed induced pluripotent stem cell (iPSC) lines to test the permeability of the blood-brain barrier to two therapeutic agents used in several neuromuscular diseases, including spinal muscular atrophy (SMA): three iPSC lines obtained were differentiated into endothelial cells involved in brain microvascularisation, a permeability index (endothelial electrical resistance or TEER) was defined, … [Read more]

The results of an online survey on the impact of fatigue in proximal spinal muscular atrophy (SMA) carried out by the Cure SMA association among 243 adults affected by the disease have been published: responders were asked to use three of the following five fatigue measurement instruments: the Modified Fatigue Impact Scale (MFIS), the Multidimensional … [Read more]

German clinicians report the observation of a 21-year-old patient with type 2 spinal muscular atrophy who developed symptomatic intracranial hypertension after the twelfth intrathecal injection of nusinersen (Spinraza®): In addition to vomiting and headaches, the patient presented, very shortly after the injection, ocular signs (decreased visual acuity) confirmed by ophthalmological examination (bilateral papilledema), Magnetic resonance … [Read more]