Spinal muscular atrophy

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]

Japanese researchers have compared two protocols, Japanese and European, for administering nusinersen in the treatment of SMA: for regulatory reasons, the Japanese protocol involves only two intrathecal injections of nusinersen as a loading dose, followed by injections every 6 months instead of every 4 months in the European protocol, 14 Japanese adults with SMA took … [Read more]

Already available in the oral solution form, which can be stored in the refrigerator or, exceptionally, at room temperature for up to 5 days, risdiplam (Evrysdi) has now also been authorised at European level in a new galenic form: Roche has announced that the European Commission has authorised 5 mg tablets, for patients with proximal … [Read more]

A study published using data from the SMA France register, set up in 2020, shows a wide variety of phenotypes in patients with SMN1-related proximal spinal muscular atrophy (SMA) with homozygous deletion of the SMN1 gene and four copies of the SMN2 gene, sometimes more severe than expected. As of May 2023, 1,112 patients were … [Read more]

The Spanish network responsible for monitoring patients with SMN1-related proximal spinal muscular atrophy (SMA) retrospectively studied the evolution of upper limb function in SMA type II : 149 patients with type II SMA took part in the study, which consisted of measuring the Revised Upper Limb Module (RULM) functional score at regular intervals. The participants … [Read more]

South Korean researchers sought to identify predictive factors for the occurrence of a pain syndrome after long-term transforaminal injection of nusinernen in patients with SMA: 34 non-marching SMA patients participated in the study, data from the corresponding 290 intrathecal injections were analysed in a multivariate analysis, nearly half of them had experienced a pain syndrome at … [Read more]