Blog Archives
Variable severity of SMA in patients with four copies of the SMN2 gene
A study published using data from the SMA France register, set up in 2020, shows a wide variety of phenotypes in patients with SMN1-related proximal spinal muscular atrophy (SMA) with homozygous deletion of the SMN1 gene and four copies of the SMN2 gene, sometimes more severe than expected. As of May 2023, 1,112 patients were … [Read more]
Towards conditional authorisation of givinostat in Europe for walking DMD patients aged 6 and over on corticosteroids
Givinostat, a histone deacetylase (HDAC) inhibitor that acts on muscle fibrosis and inflammation in Duchenne muscular dystrophy, should be authorised in Europe very soon, under the name Duvysat™ (it has been authorised in the United States since March 2024). The application submitted to the EMA by the Italfarmaco laboratory was examined by the Committee for … [Read more]
A new non-invasive biomarker for investigating demyelinating neuropathies
An international consortium led by researchers in Nantes has developed and studied in real life a new non-invasive method for demyelinating neuropathies such as CMT1A, CIDP and anti-MAG neuropathy: shear wave elastography is a non-invasive ultrasound method based on changes in the composition and remodelling of nerve tissue in these degenerative diseases. 20 adult patients … [Read more]
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]
ERN EURO-NMD webinar, 28 May: Dr. Nicol Voermans & Ria de Haas, PhD (the Netherlands)
FSHD webinar series – Episode 4: “Clinical Trial Readiness” Wednesday 28 May 2025 – 16:00 – 17:00 Paris time Dr. Nicol Voermans & Ria de Haas, PhD (Radboud University Nijmegen Medical Centre, the Netherlands) > + infos Organized by EURO-NMD in collaboration with ERN-RND.
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]
A natural history study of upper limb function in SMA type II
The Spanish network responsible for monitoring patients with SMN1-related proximal spinal muscular atrophy (SMA) retrospectively studied the evolution of upper limb function in SMA type II : 149 patients with type II SMA took part in the study, which consisted of measuring the Revised Upper Limb Module (RULM) functional score at regular intervals. The participants … [Read more]
M&M’s – Muscle Monday Seminar – 19 May – Aurélie Goyenvalle (France)
Antisense approaches for the treatment of Duchenne muscular dystrophy and recent advances to address DMD brain comorbidities Monday 19 May 2025 – 12h00-13h00 Aurélie Goyenvalle, PhD (Laboratory Biotherapies for neuromuscular diseases at the University of Versailles, France) More information on the presentation and the speaker On prior registration for people outside the Institute of Myology: … [Read more]
ERN EURO-NMD webinar, 22 May: Prof. Tracey Willis (UK)
FSHD webinar series – Episode 3: “Pediatric FSHD” Thursday 22 May 2025 – 16:00 – 17:00 Paris time Prof. Tracey Willis (Robert Jones and Agnes Hunt Orthopaedic and District Hospital NHS Trust, UK) > + infos Organized by EURO-NMD in collaboration with ERN-RND.
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]
