Blog Archives
Proteomics as an alternative to muscle biopsy
European researchers, including two from the Institute of Myology, report on progress in serum biomarkers for Duchenne muscular dystrophy (DMD): classical markers, such as creatine phosphokinase, myoglobin and lactate dehydrogenase, are still valid but have serious limitations, biomarkers derived from mass spectrometry studies now provide important and very often reliable information, particularly in cases of … [Read more]
EDG-5506 (sevasemten) stabilises functional scores in Becker’s myopathy
EDG-5506 (Edgewise Therapeutics) is a small molecule which limits the recruitment of fast muscle fibres during muscular effort, protecting the muscle from possible mechanical damage. This molecule is being evaluated in several trials, some of the results of which have been shared in recent months: A phase I trial in participants aged between 18 and … [Read more]
Positive results in mice for a new gene therapy for type I SMA
While Zolgensma® gene therapy in SMA is associated with a risk of cardiotoxicity and hepatotoxicity, another gene therapy EXG001-307 could represent a new, safer option for patients with type I SMA. Results obtained by an American and Chinese team in a mouse model of SMA show : a dose-dependent efficacy of EXG001-307, with increased survival, … [Read more]
The risk of false positivity of RACh autoantibodies persists
Italian biologists have looked retrospectively at the risk of obtaining ‘false positive’ autoantibody results when investigating patients suspected of having myasthenia gravis, the study was limited solely to autoantibodies directed against the acetylcholine receptor (anti-RACh) of the 4,795 tests carried out over the last 20 years and revisited for the purpose, 50 true ‘false-positives’ were … [Read more]
The importance of in-depth genetic analysis in cases of congenital myopathies linked to the RYR1 gene
On the basis of two paediatric cases of myopathies linked to the RYR1 gene and a review of the literature, a Japanese team has highlighted the complexity of genetic counselling in these diseases, linked to their possible dual mode of inheritance, via an autosomal dominant or recessive mode. It is difficult to distinguish between these … [Read more]
Gene therapy on hold in Danon disease
Despite encouraging results from a phase I trial of the RP-A501 gene therapy for cardiomyopathy in Danon disease, the phase II trial which had started with 12 participants has been put on hold. This follows the appearance of complications linked to capillary leak syndrome in one of the participants, resulting in his death from an … [Read more]
Myo-Guide: an online tool combining AI and MRI to help diagnose NMDs
An international consortium has developed a web application based on artificial intelligence (machine learning) for the automated diagnosis of neuromuscular diseases using muscle MRI. It can be accessed by anyone on the Myo-Guide platform. To develop it, 34 centres in Europe, America and Asia shared 2,961 muscle MRI scans of patients with 20 different pathologies. Its … [Read more]
A look back at JDF 2025, a meeting place for patients, families, experts and volunteers
The annual Journées des Familles event organised by the AFM-Téléthon at the Parc Floral near Paris was held on 4 and 5 July. Nearly 1,700 families, volunteers, members, researchers and professionals attended. It was a great opportunity for everyone to meet up, get informed and exchange ideas in a festive atmosphere. The programme included meetings … [Read more]
A new series of cases of autosomal dominant calpainopathy
French and Danish researchers have published data on patients suffering from primary calpainopathy and deviating from the usual pattern of inheritance: the 4 new cases are in addition to the exceedingly rare cases in which autosomal dominant inheritance (LGMD-D4 according to the revised nomenclature for LGMD) has been clearly established, they involved a father and … [Read more]
The use of an exoskeleton maximises the effect of nusinersen
Japanese researchers report the results of a study comparing the outcome of 12 patients with SMA who had or had not undergone motor rehabilitation using an exoskeleton, in addition to intrathecal treatment with nusinersen : the 12 patients were mainly adults with type II or III SMA, two treatment groups were set up, one with … [Read more]
