Spinal muscular atrophy

South African clinicians have compiled and analysed the difficulties in accessing innovative treatments for SMN1-related proximal spinal muscular atrophy in much of the non-Western world: their work is based on an exhaustive literature review covering the period 2014–2025, though limited to the paediatric population, innovative treatments (Spinraza, Zolgensma and Evrysdi) and their corollary, neonatal screening; … [Read more]

Researchers in Lyon have investigated, both in vitro and in vivo, the potential therapeutic synergy between the type 6 HDAC inhibitor (givinostat), which is already used to combat muscle atrophy in Duchenne muscular dystrophy, and nusinersen, which is already marketed for the treatment of spinal muscular atrophy (SMA): in the SMA cell models used (SMA … [Read more]

The European Commission has just authorised the marketing of Itvisma (onasemnogene abeparvovec) for the treatment of SMN1-related proximal spinal muscular atrophy (SMA) in patients aged two years and over. This is the first gene therapy authorised in the European Union for patients with SMA aged over two years, including adolescents and adults, administered as a … [Read more]

The registration of risdiplam (Evrysdi) film-coated tablets in the French Official Journal has just been published. This new formulation will be available in pharmacies from 9 June 2026. It is indicated for patients with type I, II or III spinal muscular atrophy (SMA), or those with 1 to 4 copies of the SMN2 gene, aged … [Read more]

Brazilian clinicians sought to determine the prevalence of autism spectrum disorders (ASD) among children with the most severe form of SMA type 1 who had survived thanks to the use of an innovative therapy: 13 children meeting these criteria were included in an observational study comprising age-adjusted cognitive and behavioural tests; they were on average … [Read more]

GNR-100 could be the first generic version of Spinraza for SMN1-related proximal spinal muscular atrophy. A Russian study has demonstrated bioequivalence between the two products, both of which contain the active ingredient nusinersen sodium (an antisense oligonucleotide). Comparative analyses have shown that the structural and physicochemical properties of the two products are similar. The impurity … [Read more]

Canadian researchers used two tools designed to assess bulbar function in adults with SMN1-related proximal spinal muscular atrophy (SMA): 15 adults with SMA took part in this 12-month validation study, which measured maximal phonation time (MPT) and the S/Z ratio, assessing the specific phonation time for the phonemes ‘s’ and ‘z’, whilst correlating these data … [Read more]

Italian researchers have been investigating taurine, a naturally occurring amino acid whose metabolism appears to be affected in proximal spinal muscular atrophy (SMA): they first demonstrated that taurine levels were significantly reduced in the central nervous system of a mouse model of SMA (SMND7), particularly in the brainstem;  taurine levels subsequently measured in the cerebrospinal … [Read more]

German and Australian researchers report the case of two newborns who tested positive at birth for SMA: during the initial routine analysis, a homozygous deletion of the SMN1 gene was identified; as the confirmatory test using complementary techniques (ddPCR, MLPA) proved negative, the hypothesis of an unusual genotype was then put forward, two distinct rearrangements … [Read more]

A retrospective study describes eight pregnancies in six women with severe SMA, who were all wheelchair-dependent, including one case of type I SMA. The three women who were receiving noninvasive ventilation (NIV) at home prior to their pregnancies experienced a deterioration in their respiratory function. They required increased respiratory support but were able to return … [Read more]