Blog Archives
Telethon 2023: 92,905,533 euros, thanks to you, an exceptional fundraising campaign. Thank you for your support!
92,905,533 was the final amount raised by the Telethon held on 8 and 9 December 2023. This exceptional result bears witness to the unfailing mobilisation of millions of donors, volunteers and partners throughout France and abroad. It is also the result of the commitment of our ambassador, Vianney, as well as the artists, presenters and … [Read more]
Call for a national « Muscle Plan »
2024, the year of physical activity and sport as a Great National Cause, must also be the year of the Muscle. Nearly 250 experts gathered at the first Assises du Muscle, organized on June 1, 2023 by the Institut de Myologie and the AFM-Téléthon, underlined the crucial role of muscle as a genuine public health … [Read more]
43 French personalities call for a national “Muscle Plan” as a legacy of the Paris Olympic and Paralympic Games
Over forty French personalities from a broad range of backgrounds are calling for the launch of a national, cross-disciplinary “Muscle Plan” to give muscle science and medicine the ressources to transform the lives of French people. This appeal follows on from the first Muscle Conferences, organized on June 1 at the Conseil économique, social et … [Read more]
A biallelic SOX8 variant causes a new syndrome combining myopathy, bone deformities, intellectual impairment and ovarian dysfunction
A Canadian team reports the case of a skinny, short 27-year-old woman with a diminished head circumference, non-progressive proximal and distal muscle weakness, moderate intellectual impairment and oligomenorrhea. She also presented with facial paralysis, significant dysphagia and severe dysphonia, as well as elbow, knee and ankle retractions and long, thin, hyperlaxed fingers. From birth, there … [Read more]
Muscle hypertonicity linked to TPM2 and TPM3 variants
A Finnish team has described a congenital myopathy linked to atypical TPM2 or TPM3 in seven patients from three families. In contrast to the phenotype of nemalin myopathy with weakness and hypotonia usually associated with TPM2 or TPM3 mutations, the patients presented with muscular hypertonia that could go as far as trismus and/or lead to … [Read more]
New results from SMART trial with Zolgensma in proximal spinal muscular atrophy
Results from the one-year SMART trial with Zolgensma, the Novartis gene therapy product, were announced by Novartis via press release and presented at the Muscular Dystrophy Association (MDA) annual meeting: the trial involved 24 children with symptomatic SMN1-related proximal spinal muscular atrophy (SMA), aged between 1.5 and 9 years, weighing between 8.5 and 21 kg, … [Read more]
Results of phase II trial testing erythromycin in DM1
Based on its efficacy in a mouse model of Steinert’s disease (DM1), a Japanese team evaluated erythromycin (MYD-0124) against placebo in 30 DM1 patients treated for six months. The treatment was well tolerated. Two out of eleven biomarkers (splicing abnormalities of the MBNL1 and CACNA1 genes) were improved in the treated group compared with the … [Read more]
The 2nd Muscle Week will take place from 1 to 7 June 2024
The Institute of Myology and the AFM-Téléthon are launching the 2nd Muscle Week, which aims to raise awareness among as many people as possible of the crucial importance of muscle in our overall health. The event has been designated the “Great National Cause of 2024” and will take place from 1 to 7 June 2024 … [Read more]
Intermediate data confirm good results for efgartigimod in myasthenia gravis
An open-label extension of the international Adapt trial, Adapt+ involved 151 adults with generalized autoimmune myasthenia gravis treated with cycles of four weekly infusions of Vyvgart® (efgartigimod) over three years, according to a dosage schedule adapted to the course of the disease. After an average of 18 months of treatment and follow-up, the investigators noted … [Read more]
Remission of refractory necrotizing myopathy after 18 months of CAR-T cell therapy
After good results in lupus, myasthenia and anti-synthetase syndrome, a new publication reports the successful treatment of another autoimmune disease in China with CAR-T cells directed against the B lymphocyte maturation antigen (or BCMA) developed by Iaso biotherapeutics, CT103A : the 25-year-old patient had lost his ability to walk due to refractory autoimmune necrotizing myopathy, … [Read more]
