Spinal muscular atrophy

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]

Around twenty international experts on SMA gathered at a workshop organised by the European Neuromuscular Centre (ENMC) to review the neurodevelopmental disorders observed in a number of children with SMA type I who are receiving or have received innovative therapy: these disorders affect cognition, social interactions, communication and behaviour; their frequency appears to be significant … [Read more]

Researchers consulted the SMArtCARE registry, which focuses on SMA in Germany, Austria and Switzerland, in the context of innovative therapies available since 2017: data from 2,140 SMA patients listed in the registry were analysed, 60% of them received treatment with nusinersen, 24% with risdiplam and 11% with gene therapy (onasemnogene aboparvovec), two-thirds of treated patients … [Read more]

In SMN1-related proximal spinal muscular atrophy (SMA), the intravenous treatment Zolgensma is indicated for infants and young children weighing less than 21 kg with type I SMA or carrying a biallelic mutation of the SMN1 gene and a maximum of 3 copies of the SMN2 gene. According to the Phase III STEER and STRENGTH trials, … [Read more]