Blog Archives
Experts from the institute will present their research findings at Myology 2024
Researchers and clinicians from the Institute of Myology will be presenting their findings at the next international myology congress, Myology 2024, organized by AFM-Téléthon from April 22 to 25. Over 70 international speakers will take the floor in 23 plenary and parallel sessions and 7 industry symposia, and more than 400 scientific posters will be … [Read more]
Natural history of X-linked myopathy with excessive autophagy
X-linked myopathy with excessive autophagy (XMEA) is a little-known disease linked to the VMA21 gene. It leads to autophagy failure with progressive vacuolation and atrophy of skeletal muscles. The aim of this retrospective study, conducted by French teams including researchers and clinicians from the Institut de Myologie, was to define the clinical, radiological and natural … [Read more]
TOPAZ trial of apitegromab in SMA
The TOPAZ trial tested the safety, tolerability and efficacy of the anti-myostatin apitegromab in SMA over one year in the United States and Europe (but not in France). The 58 participants, aged between 2 and 21 years, received apitegromab intravenously every 4 weeks for one year. The first cohort (open-label) included 23 participants with type … [Read more]
Charcot-Marie-Tooth disease: one in two orthotic devices prescribed is no longer used over time
An online survey of 266 Italian patients suffering from Charcot–Marie–Tooth (CMT) disease shows the low use of lower–limb orthoses: 70% of participants had received a prescription, 59% said they had experienced complications (discomfort, pain) related to the orthosis, 19% did not wear their orthoses, 31% eventually abandoned them. A French survey also showed that only … [Read more]
Proteomics to help elucidate pathophysiological interactions and associated multisystem dysfunctions
This perspective article, in which researchers from the Institute of Myology took part, addresses the question of how proteomics, a central systems biology technique deeply rooted in the multi-omics field of modern biological research, can help us to better understand the molecular pathogenesis of complex diseases. Duchenne muscular dystrophy is an example of a monogenetic … [Read more]
News of enzyme therapy in Pompe disease
Several laboratories are developing recombinant enzymes for the treatment of Pompe disease: Sanofi-Genzyme, already the originator of the first marketed treatment, Myozyme, has developed a new treatment, Nexviadyme®, while Amicus Therapeutics has developed a treatment combining a recombinant enzyme (Pombiliti®) and a chaperone molecule (Opfolda®). Using data from the international registry (more than 300 patients … [Read more]
A consensus on the management of autoimmune myasthenia in the five Nordic countries
Clinicians from the five Nordic countries (Norway, Sweden, Finland, Denmark and Iceland) have shared their experience in the management of generalised autoimmune myasthenia with autoantibodies against the acetylcholine receptor, and issued recommendations: symptomatic treatment with pyridostigmine (or equivalent) remains the basis of management, the role of corticosteroid therapy, traditional immunosuppressants and new molecules such as … [Read more]
ERN EURO-NMD webinar, 2 April : Dr. Francina Munell Casadesus (Spain) & Prof. Laurent Servais (UK)
Overview of gene therapy developments for clinicians & Gene therapy in clinical practice Tuesday 2 April 2024 – 17:00-18:00 Paris time Dr. Francina Munell Casadesus (Hospital Universitari Vall D’Hebron, Barcelona, Spain) “General overview of gene therapy developments for clinicians” & Prof. Laurent Servais (University of Oxford, UK) “Gene therapy in clinical practice- when and how” … [Read more]
The use of home mechanical ventilation has increased over the last two decades
In order to assess the use of home mechanical ventilation, invasive or non-invasive, between 2000 and 2023, French and Belgian authors carried out a review of the literature: 32 studies with a total of 8815 children undergoing home ventilation were included; 37% of the children had a neuromuscular disease; over the past 24 years, the … [Read more]
Language development is better in children with SMA treated at presymptomatic stage
Italian clinicians studied language skills in 36 children with type I spinal muscular atrophy (SMA), whether symptomatic (24/36) or not (12/36), and who had benefited from an innovative therapy: the 12 pre-symptomatic children were diagnosed as part of newborn screening, the 36 children had their communication skills, including language, assessed once or twice over time, … [Read more]
