Myology research highlights
RSS feedWhole genome screening may be useful in the molecular diagnosis of CMT
The diagnostic yield of standard genetic studies for Charcot-Marie-Tooth (CMT) disease remains relatively poor despite the use of high-throughput sequencing (NGS). South Korean researchers have adopted a “whole-genome sequencing” (WGS) strategy in an attempt to remedy these difficulties. Seventy-two families were included in the study, no molecular signature had been obtained in these families (after … [Read more]
The largest cohort of fetal acetylcholine receptor antibody-associated disorders
A large international collaboration has reported 46 cases associated with maternal anti-fetal acetylcholine receptor antibodies (fRACh), the largest cohort ever described to date. The 30 mothers had anti-fRACh and anti-RACh antibodies, and half of them had not been diagnosed with myasthenia prior to pregnancy. There were seven terminations of pregnancy for severe congenital multiple arthrogryposis, … [Read more]
Five drug candidates for giant axon neuropathy
The development of an animal model of giant axon neuropathy using zebrafish, which reproduces the loss of mobility observed in patients suffering from the disease, has led to the identification of new drug candidates. The results of this French study, supported by AFM-Téléthon, were published in May 2023: Pharmacological screening to identify small molecules capable … [Read more]
New results from the STRIDE study with ataluren in DMD
The STRIDE study aims to investigate the long-term real-life data of people with Duchenne muscular dystrophy with a nonsense genetic abnormality on the DMD gene and treated with ataluren (Translarna™). The latest five-year follow-up results of 307 patients aged 5 years, compared to a control external cohort (DNHS CINRG Natural History Study) were published in … [Read more]
Chimeric proteins improve peripheral neuropathy in the mouse model of CMD 1A
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, it can also accentuate peripheral neuropathy and cause paralysis of the animal’s hind limbs. A study by researchers at the Biozentrum in Switzerland shows that inducing pantissular expression of two … [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]
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]
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]
