Spinal muscular atrophy

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]

The UK consortium dedicated to the care of young patients with SMA has carried out a retrospective mortality study using data from the national SMA REACH UK register: over a 5-year period (2019-2023), 25 deaths were recorded among the 533 children listed in the said register, one of them had a very severe form (SMA … [Read more]

In association with the Novartis laboratory, which markets the onasemnogene abepavovec or OA (a gene therapy product prescribed for infantile spinal muscular atrophy linked to SMN1 or SMA), Dutch researchers have carried out a comparative study of the costs generated by innovative therapies (nusinersen versus OA): the population studied was infants born in the Netherlands … [Read more]

An initial study evaluated epidural stimulation of the spinal cord in three patients with type III spinal muscular atrophy (SMA). While motor deficits may persist with Spinraza®, Zolgensma® and Evrysdi®, this technique could directly target the dysfunction of the neuronal circuitry of the spinal cord involved in the progression of the disease. The three participants … [Read more]

For the first time, clinicians from the Neuromuscular Diseases Reference Centres looked at the spermatogenesis of 68 men with proximal spinal muscular atrophy (SMA) before starting treatment with risdiplam, a drug likely to cause fertility problems. Of the participants, 36 had type II SMA and 32 had type III SMA, who were followed up between … [Read more]