Find here all the latest news on AFM-Telethon and rare diseases.
The discovery that the abnormal repetition of a short DNA sequence leads to the production of toxic proteins opens the way to new therapeutic approaches in oculopharyngodistal myopathy and oculopharyngeal myopathy with leukoencephalopathy.
New studies have been published on a lower-cost generic version of Spinraza in SMA, two therapies discontinued in Duchenne muscular dystrophy and home-based enzyme replacement therapy in Pompe disease.
More than ever, the French people said “Yessss” to the Téléthon! The exceptional Téléthon 2025 fundraising total reflects the remarkable trust and loyalty of volunteers, donors and partners committed alongside us. A huge thank you to each and every one of you!
Sleep, treatments, natural history and symptom monitoring are highlighted in several neuromuscular diseases in this new research highlight.
Patient care and research in mitochondrial myopathies caused by thymidine kinase 2 (TK2) deficiency are currently advancing on several fronts, with the possible arrival of a first therapy in Europe for early-onset forms and improved monitoring of disease progression in late-onset forms.
For the 7 million people living with sickle cell disease worldwide, the authorisation granted by the French National Agency for Medicines and Health Products Safety (ANSM) to launch the DREPAMIR phase I/II clinical trial represents real hope. Supported by AFM-Téléthon and led by Professor Marina Cavazzana and Dr Anne Galy (ART-TG), the aim of this trial is to provide a long-term therapeutic solution for affected patients.
In this new research highlight, discover information on urinary disorders in myasthenia, results from the EMBARK trial in DMD, pregnancy in severe forms of SMA and the benefits of virtual reality during hospitalisation.
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.