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A model to predict the distance covered during the 6MWT in Pompe disease

Researchers from the Laboratory of Physiology and Neuromuscular Evaluation at the Institute of Myology have developed and validated predictive models for the performance of the 6-minute walk test (6MWT) in Pompe disease, using simpler, less demanding tests. In fact, the 6MWT, which is commonly used to assess functional capacity in neuromuscular diseases, can prove difficult … [Read more]

The Institute’s teams at the 5th International Meeting on Laminopathies from 21 to 23 May in Paris

The 5th International Meeting on Laminopathies, being held in Paris from 21 to 23 May, brings together international experts in nuclear envelope proteins and associated diseases, including muscular dystrophies, cardiomyopathies, accelerated ageing syndromes such as Hutchinson-Gilford progeria and metabolic disorders. This meeting, which gathers together cardiologists, neurologists, endocrinologists, paediatricians, geneticists, researchers and patients, aims to … [Read more]

Researchers from the Institute at the 15th MGFA International Conference

Institute researchers at the 15th International MGFA ConferenceInstitute experts presented their work at the 15th International MGFA Conference on myasthenia gravis and associated disorders, held from 13 May to 15 May 2025 in The Hague, Netherlands. Organised by the Myasthenia Gravis Foundation of America (MGFA), this conference brings together neuromuscular researchers and healthcare professionals to … [Read more]

A new murine model of myasthenia gravis that is more effective and better suited to animal welfare

The Myasthenia gravis, etiology, pathophysiology & therapeutical approaches team, led by Rozen Le Panse at the Institute of Myology’s Myology Research Centre, has developed a new experimental murine model of myasthenia gravis (N-EAMG) that is at least as effective as the classic experimental model (C-EAMG) and offers several advantages. N-EAMG: is better suited to animal … [Read more]

Identification of effective, non-invasive MRI markers in LGMD R9

French researchers from the Institute of Myology, Genethon and Atamyo, in collaboration with Dutch researchers, have studied several quantitative MRI parameters in order to identify sensitive and non-invasive biomarkers for assessing the progression of LGMD-R9 and evaluating the efficacy of new therapies. Carried out in 18 persons with LGMD-R9 and 13 controls, this study shows … [Read more]

The benefit of reusing data from placebo groups in inclusion myositis

American researchers associated with the Institute of Myology Research Centre have compiled and re-analysed the data accumulated in the placebo arms of several clinical trials in inclusion myositis (IMM) : 11 therapeutic trials were selected, they involved 257 participants who had received only a placebo, the main endpoints were changes in muscle strength and, in … [Read more]

Long-term data on the evolution of patients with congenital myopathy

The Centre de référence des maladies neuromusculaires of the Institute of Myology conducted a single-centre observational study of 142 adult patients with congenital myopathy followed up between 1996 and 2019, for a median duration of 8 years. Congenital myopathies with cores linked to the RYR1 gene and centronuclear myopathies linked to the DNM2 gene were … [Read more]

Researchers from the Institute’s imaging laboratory at the SFRMBM conference

Experts from the Institute’s NMR Laboratory – Spectroscopy Laboratory presented their work at the 7th scientific congress of the Société Française de Résonance Magnétique en Biologie et Médecine (SFRMBM), held in Saint-Malo, France, from 24 to 26 March 2025. Oral communications Monday 24 March •  Course – « MR Fingerprinting: Practical Guide » – Benjamin … [Read more]

Two molecules with therapeutic potential identified in LGMD R2

A collaboration involving I-Stem, Genethon and the Institute of Myology carried out a high-throughput screening of 2,239 drugs already approved for other diseases and other bioactive compounds on immortalised myoblast models of limb-girdle muscular dystrophy type R2 (LGMD R2) carrying the L1341P missense mutation in the DYSF gene or in muscle fibres from dysferlin-deficient mice: … [Read more]

Checkpoint inhibitors can induce myositis, but more rarely myasthenia gravis

A French study involving several researchers and clinicians from the Institute of Myology has retrospectively demonstrated the toxic effects of checkpoint inhibitors (ICIs), innovative products widely used in oncology: previous studies had reported cases of induced myasthenia or, more frequently, induced myositis, Using the AP-HP data warehouse, 620 records of patients treated in this way … [Read more]