Blog Archives
A look back at a week of action around muscle
From 1 to 7 June, a host of events were organised across France during Muscle Week to raise awareness of the importance of muscle for our health. This 2nd edition of the event received special recognition, as it was designated the Grande Cause Nationale 2024, dedicated to physical activity and sport (“Move 30 minutes a … [Read more]
Omega3s appear to improve the FOXP3 regeneration biomarker in DMD
Supplementation with long-chain omega-3 polyunsaturated fatty acids (ω-3 LCPUFA) was tested in a double-blind, placebo-controlled study for six months in 31 boys with Duchenne muscular dystrophy (DMD): eighteen were treated with ω-3 LCPUFA and 13 with placebo; leukocyte mRNA levels of the muscle regeneration marker FOXP3 in ambulant participants were higher than in non-ambulant participants; … [Read more]
Myasthenia gravis: mycophenolate and methotrexate better tolerated than azathioprine
A UK national survey of 235 people with myasthenia gravis, 166 on azathioprine, 102 on mycophenolate and 40 on methotrexate, showed that : the most frequent adverse events were liver damage with azathioprine (23%), diarrhoea with mycophenolate (14%) and fatigue with methotrexate (18%); discontinuation of azathioprine due to adverse events was significantly more frequent than … [Read more]
An early marker of myocardial damage in DMD
Catalan clinicians have studied the possibility of early detection of myocardial alterations in Duchenne muscular dystrophy (DMD): 23 adolescents with dystrophinopathy (14 DMD, 8 Becker, 1 symptomatic transmitter) were assessed using cardiac magnetic resonance imaging (cardio-MRI) and cardiac functional parameters, their data were compared with a control group of 173 healthy individuals, the analysis was … [Read more]
ENMC workshop rethinks diagnosis and clinical trial design in inclusion myositis
Ten years after the publication of the diagnostic criteria for inclusion myositis, an international group of around thirty experts (including two from France) took part in the 272nd workshop of the European Neuromuscular Centre (ENMC) in June 2023 in the Netherlands. Their work resulted in: the inclusion of new diagnostic criteria, such as the finding … [Read more]
Expert consensus on the assessment and management of adverse reactions to delandistrogene moxeparvovec (Elevidys®)
Given the rapid and recent development of microdystrophin gene therapy treatments for Duchenne muscular dystrophy (DMD), there is little data on the side effects of these treatments. The Delphi method was used to develop a consensus on the assessment and management of side effects (vomiting, gastritis, acute liver damage, myocarditis, autoimmune myositis) of delandistrogene moxeparvovecavant … [Read more]
Lessons from the long-term follow-up of over 200 adults with congenital myasthenic syndrome in France
A retrospective study based on data from 235 adults collected by a total of 23 French expert centres, during a follow-up period averaging 34 years, shows all the diagnostic difficulties of congenital myasthenic syndromes, with :
- onset in adulthood in 12.3% of cases,
- an average delay before clinical diagnosis of 17.2 years and before genetic diagnosis of 22 years,
- an initial misdiagnosis in 58.7% of patients (congenital myopathy, seronegative autoimmune myasthenia, muscular dystrophy, etc.).
The results of this major study also highlight the importance of having a genetic diagnosis, as this has an influence on the phenotype and course, as well as on the risks of exacerbation, respiratory assistance and loss of walking ability. However, the majority of patients in the French cohort had a favourable long-term prognosis and were neither ventilated nor using a wheelchair at the time of their last consultation.
An update on good practice in molecular biology for FSHD
Despite substantial advances in its pathophysiology, muscular dystrophy or facioscapulohumeral myopathy (FSHD) remains a complex muscular disease with at least two genes involved. An international consortium has revised the 2012 recommendations on genetic diagnosis:
- the European consortium dedicated to clinical trials in FSH took the lead on this revision following an ENMC workshop devoted to this subject in 2022,
- experts from the United States, India, Japan, Australia, South Africa and Brazil were added,
- the entire consortium took part in six sessions to exchange ideas and compare practices, taking into account new technologies such as molecular combing and opto-genomic mapping,
- diagnostic procedures were standardised for both FSHD1 and FSHD2, including prenatal diagnosis.
This revision was all the more necessary and useful given the growing number of clinical trials in the field of FSHD.
Results of losmapimod and antioxidants in FSHD
New trial results have recently been published for facioscapulohumeral muscular dystrophy (FHSD). For losmapimod, they show that :
- in a phase II trial involving 80 people with FSHD1 aged between 18 and 65, the product slowed the progression of the disease compared with placebo,
- MRI images showed a slowdown in the replacement of muscle cells by fatty tissue in certain muscles,
- patients reported significant clinical improvements with losmapimod (PROM),
- no significant difference was observed in muscle expression of DUX4-regulated genes in losmapimod or placebo (primary endpoint of the trial).
With antioxidants, the results of a trial conducted at Montpellier University Hospital (NCT01596803) showed an improvement in muscle volume and quality, muscle strength and antioxidant response in 10 patients compared with 10 others who received a placebo.
Inclusion myositis and sirolimus: the final results of the Rapami trial pave the way for a phase III
Sporadic inclusion myositis combines inflammatory processes and degeneration. It is the most common myositis after the age of 50, but also the only one that is refractory to the usual treatments for these autoimmune diseases (corticoids, immunosuppressants). Between 2015 and 2017, with financial support from the AFM-Téléthon, Prof. Olivier Benveniste’s team conducted a randomised, double-blind, … [Read more]
