Blog Archives
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]
Three prizes for the Institute at the WMS 2024 Congress
Three speakers from the Institute of Myology were honored at the 29th International Congress of the World Muscle Society (WMS), held October 8-12, 2024 in Prague, Czech Republic. Beatrice Labella, internist in neurology at the University of Brescia in Italy, is currently training at the Neuromuscular Investigation Center in the Morphological Unit directed by Teresinha … [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]
Encouraging results from a pilot study of thiamine in CMT
Thiamine, or vitamin B1, is important for nerve cell function. Administered as a dietary supplement, it is thought to have beneficial effects in a number of neurological diseases. Russian researchers have studied its therapeutic value in Charcot-Marie-Tooth disease. A pilot study involving 15 patients with CMT 1A showed an improvement in grip strength thanks to … [Read more]
Myostatin in SMA: few variations after treatment with nusinersen
Researchers have studied the levels of endogenous circulating myostatin in patients with SMA, at a time when several anti-myostatin drugs are being tested: myostatin and follistatin were measured before and after treatment with an innovative compound, 25 patients, including 13 with type 1 SMA, took part in this retrospective study, before treatment, myostatin levels correlated … [Read more]
A tool for assessing swallowing disorders in SMA
Italian clinicians report their experience in the endoscopic exploration of swallowing disorders in patients with type 1 proximal spinal muscular atrophy (SMA) who have not been gastrostomised and are receiving innovative therapy: 10 children underwent oropharyngeal fibroscopy and six of them underwent additional radiological exploration (video-fluoroscopy), functional scales were used to measure the risk of … [Read more]
