Spinal muscular atrophy

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]

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]

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]

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]

As of 22 July 2024, the SMA France Registry had collected data from 1,259 people with spinal muscular atrophy (SMA) through 59 participating reference centres, with: the vast majority of patients presenting with a homozygous deletion of the SMN1 gene, a higher proportion of SMA type II (502 patients) and type III (469 patients), innovative … [Read more]

NKG-001, a novel gene therapy product featuring a next-generation AAV vector (cceAAV for covalently closed-end double-stranded AAV), was tested intravenously in two children with proximal spinal muscular atrophy (SMA) aged one year (with two copies of SMN2) and two years (with three copies of SMN2) who were already being treated with nusinersen or risdiplam. NKG-001 … [Read more]

Researchers at the Centre de Référence des maladies neuromusculaires at Trousseau Hospital in Paris have studied data from patients with SMN1 type II-related proximal spinal muscular atrophy operated on for spinal deformity: the study included 25 patients operated on between 2009 and 2022 and divided into two groups, receiving either magnetic growth rods (MCGR type) … [Read more]

While Zolgensma® gene therapy in SMA is associated with a risk of cardiotoxicity and hepatotoxicity, another gene therapy EXG001-307 could represent a new, safer option for patients with type I SMA. Results obtained by an American and Chinese team in a mouse model of SMA show : a dose-dependent efficacy of EXG001-307, with increased survival, … [Read more]

Japanese researchers report the results of a study comparing the outcome of 12 patients with SMA who had or had not undergone motor rehabilitation using an exoskeleton, in addition to intrathecal treatment with nusinersen : the 12 patients were mainly adults with type II or III SMA, two treatment groups were set up, one with … [Read more]

Beijing researchers report the results of preclinical studies on a new-generation gene therapy for SMA: the new transgene (AAV9-coSMN1) contains an optimised codon, carried by an adeno-associated virus of the AAV9 type, mice from the Taiwanese model and non-human SMA primates were used and studied after intrathecal injection of the transgene, this modification in the … [Read more]