Blog Archives
Fabrice Chrétien appointed Director of Scientific Strategy at the Institute of Myology
The aim of the Foundation of Myology project is to give new impetus to myology by broadening its scope to include muscle in all its forms, by attracting the best national and international expertise and innovations, in particular through cutting-edge technical platforms and start-ups capable of turning research into therapeutic solutions. Fabrice Chrétien, currently Director of … [Read more]
Extended-release aceneuramic acid is beneficial in GNE myopathy in Japan
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 strength in GNE myopathy. Of the 19 participants who completed the study, 15 were on sialic acid and four on placebo. The difference in loss of upper limb strength over … [Read more]
ERN EURO-NMD webinar, 6th July – Prof. Karim Wahbi (France)
Cardiac Involvement in Neuromuscular Diseases 6th July 2023 at 16:00 Paris Time Prof. Karim Wahbi, PhD, MD (APHP Hospital Cochin, Paris, Institute of Myology, Paris, France) Registration: https://zoom.us/webinar/register/WN_IMKNwimKRT2gbKEIyNl2tw Organised by EURO-NMD in collaboration with ERN-RND.
Elevidys, the first microdystrophin gene therapy authorised for DMD, subject to conditions
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 gene therapy product for Duchenne muscular dystrophy, under the accelerated approval process. This authorisation applies to boys with DMD, aged between 4 and 5 years, who are walking, excluding those … [Read more]
Treating riboflavin transporter deficiency before birth
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 given riboflavin supplements in utero. From the 28th week of pregnancy, the mother took 200 mg of riboflavin every four hours with no adverse effects. The newborn had no neurological … [Read more]
Pompe disease: positive results from the COMET trial
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 received Nexviadyme in an open-label extension phase. After a further year of treatment, results were published in April 2023: Participants who continued their initial treatment with Nexviadyme showed a 2.65% … [Read more]
DM1: a promising new approach to gene therapy
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 it the most common muscular disease in adults. DM1 is characterised by multi-systemic symptoms, particularly in skeletal muscles (progressive weakness and atrophy, myotonia), cardiac muscle (conduction disorders) and the central … [Read more]
Neuropathies Rehabilitation – ERN-NMD Summer School – 18-21 Sept 2023
The Neuropathies Rehabilitation Summer School will take place from September 18-21, 2023 in Roma, Italy. Held under the auspices of ERN EURO-NMD, this summer school aims to disseminate knowledge on current and future modalities of rehabilitation in rare and complex peripheral neuropathies and assessment of evidences, it is designed for physiotherapists, occupational therapists, clinicians with … [Read more]
DMD: first study of DEC cell therapy in humans
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 (DMD) of a novel cell therapy product, DT-DEC01. The product consists of chimeric cells expressing dystrophin derived from the fusion of two myoblasts, one from a healthy donor and the … [Read more]
Researchers from the Institute’s NMR laboratory at the ISMRM 2023 conference
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 from June 3 to 8, 2023. Communications Eléonore Vermeulen : Quantification of muscle fat fraction and water T2 via RF phase-modulated 3D gradient-echo imaging Constantin Slioussarenko : A steady-state MRF … [Read more]
