Myology research highlights

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]

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]

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]

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]

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 and monitored for at least a year, with no clinical sign of any autoimmune disorder. Antinuclear antibodies were found in 24% of cases, antibodies specific to myositis in 9% or … [Read more]

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 articles between 2000 and 2022. The disease appeared at an average age of 7.38 years (from one to 18 years), in the form of ocular involvement (ptosis, diplopia, strabismus) in … [Read more]

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 have reported safety problems. Rhesus macaque primates were given a gene therapy product developed by the Amicus laboratory in increasing doses by the systemic route. The construct included the human … [Read more]

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 a myosin-associated protein C. The authors of this ultra-rare disease report another case, but with a different genotype: the patient concerned had mild myopathy but a marked tremor of the … [Read more]

A study of the nutritional status of 159 patients with facioscapulohumeral myopathy (FSHD), 74 women and 85 men, revealed : a varied and balanced diet, albeit with deficiencies in minerals and vitamins, mainly zinc and vitamins C and E, deficiencies in daily energy and protein intake were also reported, lower intakes of vitamins and minerals … [Read more]