Myology research highlights
RSS feedTreating 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]
A significant proportion of fibromyalgia patients are positive for antibodies specific to or associated with myositis
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]
Juvenile myasthenia is different from adult myasthenia and has a relatively benign course
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]
Risk of myocarditis identified in primates receiving gene therapy for Pompe disease
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]
Muscle tremor is no longer the exclusive preserve of the MYBPC1 gene
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]
Vitamin and mineral deficiencies in FSH
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]
American guidelines for better assessment criteria in the evaluation of myasthenia gravis
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, particularly in the field of clinical trials. This is the observation made by a number of experts at a meeting held in the United States with a view to making … [Read more]
Small molecules to improve the efficacy of tricyclo-DNA antisense oligonucleotides in mdx mice
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 their escape from the cellular endosomes in which they are trapped.
The mdx mice were injected intravenously with a therapeutic treatment combining tricyclo-DNA antisense targeting mutated exon 23 and UNC7938. The results showed :
- a significant improvement in exon skipping levels, particularly in the early stages of treatment, with up to a 4. 4x increase in the heart 72 hours after injection;
- significantly higher levels of restored dystrophin, two weeks after the end of treatment, with 2.7 times more protein in the heart compared with mice treated with oligonucleotides alone;
- normalisation of cardiac function three months after the end of treatment, comparable to the group of non-diseased mice.
These results suggest that these compounds, which facilitate endosomal escape, can considerably improve the therapeutic potential of exon skipping approaches.
