Spinal muscular atrophy
RSS feedThe effect of nusinersen on taurine metabolism in SMA
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]
An in-depth and informative analysis of two false-positive cases in neonatal screening for SMA
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 pregnancy documented in SMA type I
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]
Neurodevelopmental disorders in children with treated SMA type I: a point of attention
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]
German-speaking real-world data on the use of innovative therapies in SMA
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]
Intrathecal gene therapy Itvisma effective in two Phase III trials in SMA
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]
Positive results from the Phase III SAPPHIRE trial with apitegromab in SMA
Apitegromab is a human monoclonal antibody that selectively inhibits myostatin activation to improve muscle function. Its efficacy was evaluated at one year in the Phase III SAPPHIRE trial, which included 188 patients with type II or III SMA who were non-ambulatory, aged 2 to 21 years, and already receiving treatment targeting the SMN protein (Spinraza … [Read more]
Evrysdi, reimbursed for presymptomatic SMA
According to the publication in the Official Journal of 13 January 2026, the conditions for reimbursement of Evrysdi (Risdiplam) in oral solution form have been extended to include presymptomatic children. They now apply to a wider range of patients: patients with a clinical diagnosis of SMA type I, II and III, presymptomatic patients with 1 … [Read more]
A new protocol for treatment with high-dose nusinersen arrives in Europe
While nusinersen is currently administered at a dose of 12 mg intrathecally, a new treatment device with higher doses (50 mg and 28 mg) has just been authorised by the European Commission. This follows the results of the DEVOTE trial, which showed a significant improvement in motor function in participants with proximal spinal muscular atrophy … [Read more]
The French model for multidisciplinary team meetings in SMA
With the arrival of three innovative treatments (Spinraza, Zolgensma and Evrysdi), multidisciplinary team meetings (MTM) were set up in France in 2017 and then rolled out nationwide in 2019 to define the best treatment strategy for children who have just been diagnosed with SMA or who do not yet have treatment. The main features of … [Read more]
