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1385 news items
Research
Chimeric proteins improve peripheral neuropathy in the mouse model of CMD 1A
On 30/06/2023
While the expression of artificial binding proteins specifically in muscle tissue improves the dystrophic phenotype and compensates for LAMA2 deficiency in DMC 1A mouse models,…
Research
Extended-release aceneuramic acid is beneficial in GNE myopathy in Japan
On 30/06/2023
A Japanese multicentre, placebo-controlled phase II/III trial has shown that 6 g/day of extended-release sialic acid for 48 weeks is effective on upper limb muscle…
Research
Elevidys, the first microdystrophin gene therapy authorised for DMD, subject to conditions
On 29/06/2023
On 22 June 2023, Sarepta Therapeutics announced that it had received marketing authorisation from the FDA for Elevidys (delandistrogene moxeparvovec-rokl or SRP-9001), the company’s microdystrophin…
Research
Treating riboflavin transporter deficiency before birth
On 27/06/2023
The little brother of a young boy with riboflavin transporter deficiency who had the same mutation in the SLC52A3 gene responsible for the disease was…
Research
Pompe disease: positive results from the COMET trial
On 26/06/2023
Following an initial double-blind phase of the COMET trial, which compared the efficacy and safety of avalglucosidase alfa (Nexviadyme) to alglucosidase alfa (Myozyme), all participants…
Research
DM1: a promising new approach to gene therapy
On 22/06/2023
Myotonic dystrophy type 1 (DM1), also known as Steinert disease, is a neuromuscular disorder. This rare genetic disorder affects around one in 8,000 people, making…
Research
DMD: first study of DEC cell therapy in humans
On 19/06/2023
A Polish-American team, in collaboration with the Dystrogen Therapeutics laboratory, has just published the results of the administration to patients suffering from Duchenne muscular dystrophy…
Research
Researchers from the Institute’s NMR laboratory at the ISMRM 2023 conference
On 15/06/2023
Several members of the NMR Laboratory presented the team’s work at the annual ISMRM (International Society for Magnetic Resonance in Medicine) conference, held in Toronto…
Research
A significant proportion of fibromyalgia patients are positive for antibodies specific to or associated with myositis
On 15/06/2023
An Italian team assessed the prevalence of myositis-specific or myositis-associated autoantibodies in 233 people aged 57 on average, with fibromyalgia defined by the 2016 criteria…
Research
Juvenile myasthenia is different from adult myasthenia and has a relatively benign course
On 13/06/2023
A review of the literature has enabled Chinese clinicians to carry out a meta-analysis of data from 1,109 patients with juvenile myasthenia published in 11…
Research
Risk of myocarditis identified in primates receiving gene therapy for Pompe disease
On 12/06/2023
As part of animal toxicity studies prior to the launch of a gene therapy clinical trial for Pompe disease, researchers at the University of Pennsylvania…
Research
Muscle tremor is no longer the exclusive preserve of the MYBPC1 gene
On 09/06/2023
An autosomal dominant hereditary myopathy with, phenotypically, a very marked tremor in the foreground has recently been described and linked to the MYBPC1 gene encoding…
Research
Vitamin and mineral deficiencies in FSH
On 08/06/2023
A study of the nutritional status of 159 patients with facioscapulohumeral myopathy (FSHD), 74 women and 85 men, revealed : a varied and balanced diet,…
Research
American guidelines for better assessment criteria in the evaluation of myasthenia gravis
On 08/06/2023
The quality, and therefore the reliability, of outcome measures of the severity and/or progression of myasthenia gravis (MG) sometimes it comes up a little short,…
Research
International guidelines for VCP myopathies
On 07/06/2023
Mutations in the VCP gene encoding valosin-containing protein cause complex neurodegenerative clinical pictures almost invariably associated with myopathy. An international consortium of experts, two of…
Research
Small molecules to improve the efficacy of tricyclo-DNA antisense oligonucleotides in mdx mice
On 05/06/2023
A French team evaluated the efficacy of small molecules (UNC7938) in mdx mice to increase the availability of antisense oligonucleotides in the cell, by facilitating…
Research
Restoration of brain dystrophin improves memory in mdx mice
On 02/06/2023
In a study published in May 2022, two French teams succeeded in partially restoring dystrophin in certain brain regions of adult mdx mice, an animal…
Research
Description of the first Franco-Swiss cohort in SORD-related peripheral neuropathy
On 01/06/2023
Defects in the SORD gene lead to hereditary distal motor neuropathy (dHMN type) or distal sensory-motor neuropathy (Charco-Marie-Tooth type). Discovered in 2020, there are still…
Research
National recommendations for the management of dysimmune polyradiculoneuritis
On 26/05/2023
In conjunction with the healthcare authorities, a group of practitioners from the FILNEMUS neuromuscular healthcare network has drawn up recommendations for the rational use of…
Research
A European study clarifies the cardiac phenotype of children with muscular laminopathy
On 25/05/2023
European neuropaediatricians and cardiologists have compiled the clinical and paraclinical data, in particular cardiac data, of a large cohort of 28 children with various phenotypes…