Spinal muscular atrophy
RSS feedGene 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]
Changes in respiratory function in adults with SMA treated with nusinersen
German clinicians studied the respiratory parameters of 192 adult patients with SMA receiving nusinersen treatment: patients had been treated for an average of 3.2 years, several spirometry tests had been performed during this period and were correlated with each patient’s functional motor status, ventilatory parameters remained stable throughout the treatment period, with minimal deterioration, the … [Read more]
A wide variety of practices concerning alternative methods of repeated intrathecal injection of nusinersen in SMA
American researchers conducted a meta-analysis of implantable devices designed to facilitate the intrathecal administration of nusinersen, one of three innovative therapies commonly used for SMA: the authors searched various medical literature databases using the PRISMA methodology, eight studies involving a total of 74 patients with SMA were selected, the various devices were always used off-label … [Read more]
Physiotherapy treatment for patients with SMA in German-speaking areas
A survey on the profile and practices of physiotherapists treating patients with all types of spinal muscular atrophy was conducted within the SMArtCARE network, which comprises 83 German-speaking reference centres in Germany, Austria and German-speaking Switzerland: two online questionnaires were developed, one by a panel of expert physiotherapists using the Delphi approach, and the other … [Read more]
A scale adapted for newborns with SMA
American and Italian clinicians have developed and tested a new scale that is eagerly awaited in the context of the widespread use of neonatal screening for spinal muscular atrophy (SMA) around the world: this scale, called ‘SMA-NNE’, is largely inspired by an existing tool, the Hammersmith Neonatal Neurological Examination (HNNE), and items from a module … [Read more]
Neurodevelopment and mental health in children with symptomatic or presymptomatic SMA
Italian clinicians undertook a large neuropsychological and neurobehavioural study in children with SMN1-related proximal spinal muscular atrophy (SMA) type 1 who had received innovative therapy at a symptomatic (25) or presymptomatic (6) stage: the cohort studied included children aged 2 to 10 years, they were assessed by a multidisciplinary team using several criteria, parents had … [Read more]
Improvement in motor function with Evrysdi® in presymptomatic SMA
Approved for spinal muscular atrophy (SMA), the efficacy of Evrysdi® in presymptomatic forms remained uncertain. In the international RAINBOWFISH open-label trial, 26 genetically diagnosed infants received Evrysdi® for two years within the first six weeks of life before the onset of symptoms. After 12 months of daily oral treatment, 81% of infants could sit unaided … [Read more]
