Myology research highlights
RSS feedMyasthenia 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]
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.
Myasthenia gravis in France seen through the national health data system prism
In order to assess the incidence and prevalence of myasthenia gravis in France, a group of researchers from Auvergne analyzed data contained in the national health data system (SNDS) : the study covered the period 2008-2018, 331 patients were identified in the SNDS, enabling us to extrapolate an incidence of 50 per million inhabitants per … [Read more]
CAR-T cell-based dual therapy successfully tested in refractory myasthenia gravis
In a Letter to the Editor, Chinese clinicians report the case of a 64-year-old myasthenic patient who benefited from CAR-T cells targeting both the BCMA and CD19 antigens: the patient had had a classic course of refractory myasthenia over the seven years since his diagnosis in 2016, a protocol of induced depletion of B lymphocytes … [Read more]
The value of eculizumab in refractory myasthenia gravis and a possible switch to ravulizumab
Japanese clinicians report their real-life experience of administering new anti-complementary molecules in a series of 36 adults with a refractory form of myasthenia gravis (3% of a total cohort of 1,106 myasthenic patients): the 36 patients concerned had received eculizumab (Soliris®) as first-line treatment for an average of 35 months, clinical benefit was observed in … [Read more]
New techniques improve the diagnostic yield of high-throughput sequencing in neuromuscular diseases
Australian geneticists report on their experience in using more sophisticated high-throughput sequencing techniques (NGS for next-generation sequencing) or transcriptomic studies in the context of a molecular diagnostic laboratory for neuromuscular diseases: faced with the negativity of conventional whole exome sequencing (WES) or gene panel studies in certain patients, the authors used either RNASeq or whole … [Read more]
