Blog Archives

Various therapeutic strategies have been used over the years to alleviate Myasthenia Gravis (MG) symptoms: fluctuating, fatigable muscle weakness that worsens with activity and improves with rest. These strategies aim at improving the transmission of the nerve impulse to muscle or at lowering the immune system with steroids or immunosuppressant drugs. Nevertheless, MG remains a … [Read more]

In this 52-week, phase I/II double-blind, randomized, placebo-controlled study, the authors investigated the novel use of clenbuterol in eleven participants with late-onset Pompe disease (LOPD) stably treated with ER (NCT01942590).. At week 52, the 6-min walk test distance increased by a mean of 16 m (p = 0.08), or a mean of 3% of predicted … [Read more]

Genethon, leader in the development of innovative therapies, especially in gene therapies for rare diseases, is a structure that integrates research, preclinical and clinical development notably thanks to its state-of-the-art platforms. Inserm supports its research activities. Genethon is initiating 3 projects : Giant editing: genome editing for large genes in muscular dystrophies Congenital Myopathies project … [Read more]

Thymic epithelial cells are one of the main components of the thymic microenvironment required for T-cell development. In this work,researchers from the team “Myasthenia Gravis, etiology, pathophysiology & therapeutic approach” led by Sonia Berrih-Aknin et Rozen Le Panse (Myology Centre for Research) describe an efficient method free of enzymatic and Facs-sorted methods to culture human medullary … [Read more]

Researchers at the Institute of Myology and I-Stem report encouraging results from metformin, a known antidiabetic agent, for the symptomatic treatment of Steinert myotonic dystrophy. In fact, a phase II trial conducted in 40 patients at the Henri-Mondor AP-HP Hospital shows that, after 48 weeks of treatment at the highest dose, patients treated with metformin … [Read more]

By employing a combination of live cell imaging and biochemical measures, the authors of the present study aimed to explore valproic acid (VPA) as a potentially beneficial drug in cellular and worm models of oculopharyngeal muscular dystrophy (OPMD). They demonstrated that VPA protects against the toxicity of mutant PABPN1. Of note, they found that VPA … [Read more]

A team from the Institute of Myology has identified molecules capable of targeting NO synthase, an enzyme involved in the synthesis of nitric acid and whose expression is reduced in Becker muscular dystrophy (BMD). The “Therapeutic Strategies Based on RNA Repair & Pathophysiology of Skeletal Muscle” group, led by France Pietri Rouxel (Myology Centre for … [Read more]

This observational cross-sectional study was conducted in a national facioscapulohumeral muscular dystrophy (FSHD) expertise center to estimate the penetrance of FSHD1 and to evaluate phenotype-genotype correlations in ten FSHD1 probands carrying 4-9 D4Z4 unit alleles and 140 relatives. The relationship between age-corrected clinical severity score and repeat size, sex, and D4Z4 methylation levels were evaluated. … [Read more]

The ACT DMD was a 48-week trial of ataluren for nonsense mutation Duchenne muscular dystrophy (nmDMD). Patients received corticosteroids for ≥6 months at entry and stable regimens throughout study. Here, the authors describe the results of a post hoc analysis that compared the efficacy and safety of deflazacort and prednisone/prednisolone in the placebo arm. Patients … [Read more]

 The development of a disease specific patient reported outcome for Charcot Marie Tooth disease is an important step in preparation for therapeutic trials. This study describes the development of the Charcot Marie Tooth Health Index (CMTHI) based on responses of participants from the Inherited Neuropathy Consortium Contact Registry. Factor analysis, assessment of test-retest reliability, known … [Read more]