Myology research highlights
RSS feedVentilatory weaning and myasthenic crisis: the experience of Raymond Poincaré University Hospital
Clinicians in the western Ile-de-France region have retrospectively analyzed the clinical and paraclinical data of 126 myasthenia gravis patients who presented with a first myasthenic episode during the course of their disease, over the period 2001-2018: 18 of the 126 patients (i.e. 14%) could not be weaned off their ventilator after a first extubation attempt, … [Read more]
Study of a Russian cohort adds to the phenotypic description of MATR3-linked distal myopathy
Matrin-3 deficiency can give rise to a form of amyotrophic lateral sclerosis (ALS) or distal myopathy with vocal cord paralysis (VCPDM). Russian clinicians report the clinical and biological data of six new patients from four unrelated families, even though these conditions remain exceedingly rare: two of these patients showed signs that initially led to the … [Read more]
Common in South India, GNE myopathy is associated with a founder effect
Clinicians in southern India, working with other international research teams, have compiled clinical, biological and genetic data from a very large cohort of adult patients previously diagnosed with GNE myopathy: 157 cases were included in this retrospective study, onset of symptoms averaged 26 years, with a delay in diagnosis of around six years, bilateral foot … [Read more]
Granulomatous myositis: a rare form of inflammatory myopathy
French researchers report the clinical and histological data and immunological profile of 26 patients diagnosed with granulomatous myositis: the age of onset was generally very late (median age 65), with clinical severity observed in half the cases, in 14 out of 26 cases, the etiology was sarcoidosis, and more rarely other causes (inclusion myositis, paraneoplastic … [Read more]
L-carnitine and creatine show therapeutic potential in animal models of laminopathy
Amino acid derivatives have been shown to be beneficial in a number of myopathies, including collagenopathies and congenital myopathies. Taiwanese researchers have explored the therapeutic relevance of these molecules, in particular L-carnitine and creatine, in two laminopathies: LMNA-related congenital muscular dystrophy (CMD) and Emery-Dreifuss muscular dystrophy (EDMD). They generated five lines of zebrafish models of … [Read more]
A new mouse model of Becker muscular dystrophy
Canadian researchers have developed a new mouse model partially deleted for the gene encoding dystrophin (DMD gene) with the aim of imitating Becker muscular dystrophy: a phase deletion from exons 52 to 55 was recreated in the animal using a CRISPR-Cas9 type approach (genome editing), the mutant mice did not express any pathological phenomena until … [Read more]
Comparative data on vamorolone and prednisone for adrenal suppression
Long-term corticosteroid therapy remains the reference treatment for Duchenne muscular dystrophy (DMD), but is associated with numerous side-effects, including resting of the hypothalamo adrenal axis. An international group of researchers has carried out a post-hoc analysis of the data obtained in a previous phase IIb trial designed to demonstrate the superiority of vamorolone (a new-generation … [Read more]
New data on FOP flare-ups and the efficacy of garetosmab
According to a post-hoc analysis of the results of the Lumina-1 phase II trial of garetosmab versus placebo in fibrodysplasia ossificans progressiva (FOP) : almost three-quarters (71%) of participants in the placebo group experienced inflammatory flare-ups during the first 28 weeks of the trial, i.e. the double-blind phase; the majority (59%) developed a new heterotopic … [Read more]
Subcutaneous route non-inferior to intravenous for efgartgimod in myasthenia gravis
In the Adapt-SC trial, 110 adults with generalised myasthenia gravis received a weekly subcutaneous (SC) or intravenous (IV) injection of efgartgimod (Vyvgart®) for 4 weeks. The results show : non-inferiority of the SC route over the IV route in terms of the percentage reduction in blood IgG levels (primary endpoint of the trial) ; a … [Read more]
Salbutamol is effective in mouse models of collagenopathy
Comme montré lors de recherches précédentes dans la SMA, le salbutamol est un candidat potentiel pour un repositionnement médicamenteux dans les maladies neuromusculaires avec des défauts de jonction neuromusculaire. Des chercheurs ont évalué pour la première fois les effets de cette molécule dans les collagénopathies grâce à des souris modèles chez lesquelles le gène COL6A1 … [Read more]
