Blog Archives
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]
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]
Effect of sirolimus on muscle in inclusion myositis observed by MRI and spectroscopy – Interview with Harmen Reyngoudt
Harmen Reyngoudt is co-director of the Institute’s NMR imaging and spectroscopy laboratory. He has just published an article* in J Cachexia Sarcopenia Muscle on the effect of sirolimus on muscle assessed by magnetic resonance imaging and spectroscopy. Interview with Harmen Reyngoudt. What is the background to this work? In order to make progress in clinical … [Read more]
The wide variety of clathrin assemblies
Clathrin is a protein that forms triskels that assemble into honeycomb-like networks on the plasma membrane, but also on internal membranes, such as the Golgi apparatus and tubular endosomes. Clathrin assemblies mainly regulate the intracellular trafficking of various protein components. Clathrin also has non-endocytic functions in cell adhesion through interactions with specific integrins. It contributes … [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]
When the benefits of hot baths in DMD are revisited
Brazilian physiotherapists have studied variations in physiological parameters in patients with Duchenne muscular dystrophy (DMD) in a seated position, in an aqueous environment or in an aerial environment: 16 DMD patients took part in an experiment in two different environments, measuring energy expenditure (in particular, oxygen consumption) and other vital parameters (functional capacity, heart rate), … [Read more]
