Blog Archives
The Institute of Myology teams are mobilising to tackle COVID-19!
Our health professionals and researchers, who are on the frontline at the Pitié-Salpêtrière Hospital in Paris, are mobilising to help patients. All the health professionals and care practitioners in the Neuro-Myology Department have met to identify, as a priority, the most fragile neuromuscular patients in order to ensure their continued care and follow-up … [Read more]
Safety and effectiveness of ataluren: comparison of results from the STRIDE registry and CINRG DMD Natural History Study
Strategic Targeting of Registries and International Database of Excellence (STRIDE) is an ongoing, multicenter registry providing real-world evidence regarding ataluren use in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD). The authors examined the effectiveness of ataluren + standard of care (SoC) in the registry versus SoC alone in the Cooperative International Neuromuscular Research Group … [Read more]
ALDH contribute to skeletal muscle homeostasis
Aldehyde dehydrogenases (ALDHs) are key players in cell survival, protection, and differentiation via the metabolism and detoxification of aldehydes. ALDH activity is also a marker of stem cells. The skeletal muscle contains populations of ALDH-positive cells amenable to use in cell therapy, whose distribution, persistence in aging, and modifications in myopathic context have not been … [Read more]
Increased dystrophin production with golodirsen in patients with DMD
The objective of this study (NCT02310906) was to report safety, pharmacokinetics, exon 53 skipping, and dystrophin expression in golodirsen-treated patients with Duchenne muscular dystrophy (DMD) amenable to exon 53 skipping. Part 1 was a randomized, double-blind, placebo-controlled, 12-week dose titration of once-weekly golodirsen; part 2 is an ongoing, open-label evaluation. Safety and pharmacokinetics were primary … [Read more]
Bilateral scapulothoracic arthrodesis for FSHD: function, fusion, and respiratory consequences
Scapulothoracic arthrodesis (STA) has been proposed for the treatment of painful scapular winging in patients with facioscapulohumeral muscular dystrophy (FSHD). However, the rate of osseous fusion is variable, and there is a theoretical risk of reduced respiratory function after bilateral STA. This was a retrospective study of 10 STAs, performed sequentially, in 5 FSHD patients. … [Read more]
Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in SMA
Spinal muscular atrophy (SMA) is caused by genetic defects in the survival motor neuron 1 (SMN1) gene that lead to SMN deficiency. Different SMN-restoring therapies substantially prolong survival and function in transgenic mice of SMA. However, these therapies do not entirely prevent muscle atrophy and restore function completely. To further improve the outcome, the researchers … [Read more]
An international consensus of experts is proposing to advance the diagnostic criteria for dermatomyositis and divide the disease into six subtypes
Dermatomyositis, a rare autoimmune disease, is one of the idiopathic inflammatory myopathies (or myositis). The current diagnostic criteria for this disease are solely clinical and histological (perifascicular atrophy, vasculopathy), and do not take into account myositis-specific autoantibodies identified in the last few years. For example, they are not present in the myositis classification published in … [Read more]
Recovering autonomy is a key advantage of home-based immunoglobulin therapy in patients with myositis: A qualitative research study
Immunoglobulins are 2nd or 3rd-line treatments in dermatomyositis (DM) or polymyositis (PM) refractory to high-dose corticosteroids and immunosuppressants. Immunoglobulins (2 g/kg/mo) are usually administered intravenously (IVIg) once a month and the patients stay at hospital for a few days. Recently, subcutaneous injections (SCIg) were proposed 2 to 3 times per week, in some dysimmune diseases. SCIg … [Read more]
Estrogen, estrogen-like molecules and autoimmune diseases
In western countries, the slope of autoimmune disease (AD) incidence is increasing and affects 5-8% of the population. Mainly prevalent in women, these pathologies are due to thymic tolerance processes breakdown. The female sex hormone, estrogen, is involved in this AD female susceptibility. However, predisposition factors have to act in concert with unknown triggering environmental … [Read more]
Adenylosuccinic acid therapy improves mdx mice
Arising from the ablation of the cytoskeletal protein dystrophin, Duchenne Muscular Dystrophy (DMD) is a debilitating and fatal skeletal muscle wasting disease underpinned by metabolic insufficiency. The inability to facilitate adequate energy production may impede calcium (Ca2+) buffering within, and the regenerative capacity of, dystrophic muscle. Therefore, increasing the metabogenic potential could represent an effective … [Read more]
