Find here all the latest news on AFM-Telethon and rare diseases.
Tested in three-dimensional muscle structures mimicking Duchenne muscular dystrophy, gene therapy improved muscle function without reducing the fibrosis characteristic of the disease.
An internationally recognized expert in the field of immunology and the development of gene therapies, Klaudia Kuranda is joining the AFM-Téléthon laboratories to establish and lead a new Immunology Center that will bring together the complementary expertise of Genethon, a leading gene therapy non-profit biotech organization, and the Institute of Myology, a center of expertise for muscle and muscle disorders.
French researchers supported by AFM-Téléthon have developed two new models in Duchenne muscular dystrophy, opening new perspectives for research, both to better understand neurological involvement and to develop future treatments.
Published in recent weeks, new studies on autoimmune necrotising myopathies, Charcot-Marie-Tooth disease, muscular dystrophies, and a study including LGMD R12 limb-girdle muscular dystrophy, Becker muscular dystrophy, Steinert disease and Charcot-Marie-Tooth 1A.
Lamotrigine could represent an alternative to mexiletine for the treatment of non-dystrophic myotonias, including over the long term.
While gene therapy is currently administered intravenously in infants with spinal muscular atrophy (SMA), two recent clinical trials show that it is also effective when delivered intrathecally in older patients.
In this new research highlight, discover information on executive functions in Duchenne muscular dystrophy, the development of new gene therapy vectors and a study on lactate measurement.
Alpelisib, RK783 and KTI-2338 have shown efficacy in laboratory studies in fibrodysplasia ossificans progressiva.
Discover in this new research highlight information on predictive factors for the progression of a form of myositis, the role of complement in myasthenia, and recent work on a form of mitochondrial myopathy.
Treatment with apitegromab, which acts directly on muscles, appears to improve motor function in patients already treated with Spinraza or Evrysdi, according to a trial involving nearly 200 patients with type II or III spinal muscular atrophy.
The European Commission has just approved an extension for higher doses of nusinersen (Spinraza) in spinal muscular atrophy.
Discover updates on Duchenne muscular dystrophy, spinal muscular atrophy and progressive motor disorders such as Kennedy disease.
In spinal muscular atrophy linked to SMN1 (SMA), a single dose of a novel gene therapy called GC101 improved motor function in nine patients with type II and type III SMA aged six months to 18 years.
In this Research Highlights issue, we present recent study findings on thymectomy and CAR-T cell therapy in myasthenia, as well as the evaluation of ChatGPT for supporting rehabilitation in adolescents with myositis.
Lines of research moving forward, lines of solidarity expanding, lines of resistance giving way to treatments. May this new year be driven by scientific and medical advances, stronger solidarity and new victories against disease. AFM-Téléthon wishes a happy 2026 to all those who refuse the impossible and are building a true revolution in medicine!