Blog Archives
DMD: French recommandations on corticoids
On the basis of a review of the literature, the Filnemus neuromuscular rare diseases health network and the French Paediatric Neurology Society (SFNP), including clinicians from I-Motion, have published recommendations to harmonise practices for prescribing corticosteroid therapy and monitoring associated adverse effects in children with Duchenne muscular dystrophy. With regard to the long-term use of … [Read more]
ERN EURO-NMD webinar, 12 Dec.: Prof. Dr. Norma Romero (France)
The role of muscle biopsy in Congenital Myopathies Thursday 12 December 2024 – 16:00 – 17:00 Paris time Prof. Dr. Norma Romero (Institute of Myology, Paris, France) > + infos Organized by EURO-NMD in collaboration with ERN-RND.
Stamina analyses the treatment of myasthenia in ‘real life’ in France
Based on data from the French National Health Data System (SNDS), the Stamina study reviewed the management of two groups of adults with autoimmune myasthenia gravis: the ‘prevalent’ population, of 22,079 patients diagnosed before 31 December 2019, the ‘incident’ population, comprising 2,661 patients diagnosed in 2012 or 2013. A study of their follow-up shows that … [Read more]
Advances 2024 in limb-girdle muscular dystrophies
This document presents limb-girdle muscular dystrophy research news from the past year (ongoing observational studies and clinical trials, scientific and medical publications, etc.). As the name suggests, limb girdle muscular dystrophies (LGMD) affect the “limb girdle” muscles. Symptoms generally appear before the age of 30, with slow progression and no facial muscle involvement. Common symptoms … [Read more]
Three-dimensional movement analysis measures the effectiveness of gene therapy in SMA
French clinicians report the development and results of a follow-up protocol for infants with SMA treated with gene therapy (onasemnogene abeparvovec or Zolgensma®): 23 children with SMA, including 19 with type I, 3 with type II and one presymptomatic, were included in this observational study, a device was used to calculate the inertial measurement units … [Read more]
ERN EURO-NMD webinar 5 Dec.: Prof. Werner Stenzel (Germany)
The role of muscle biopsy in inflammatory myopathies Thursday 5 December 2024 – 16:00 – 17:00 Paris time Prof. Werner Stenzel (Charité – Universitätsmedizin, Berlin, Germany) > + infos Organized by EURO-NMD in collaboration with ERN-RND.
A new natural history study in SMA
An international consortium of clinicians with expertise in SMA reports new natural history data in this disease: the study population consisted of 226 patients with SMAII and 162 with type III, from five countries (Belgium, Italy, Spain, the United States and the United Kingdom), change over time in the Hammersmith Modified Functional Scale (HFMSE) was … [Read more]
The UK experience of SMA gene therapy
The UK SMA REACH consortium is reporting its experience in treating infants with SMA with abeparvovec onasemnogene (OA, Zolgensma®): 93 babies with type 1 SMA received this treatment between March 2021 and December 2022 at 16 centres across the UK, only 75 cases could be accurately documented, all had type 1 SMA and were treated … [Read more]
Telethon 2024: 79,801,520 euros – the struggle goes on!
The thirty hours of the 2024 Telethon came to a close with a total of 79,801,520 euros raised. A fantastic result for an event held on an unusual date! The 2024 Telethon will be remembered as a major breakthrough in the fight against Duchenne muscular dystrophy, the emblematic disease that led to the creation of … [Read more]
US recommendations for treating SMA
At the initiative of Cure-SMA, the American association of patients suffering from SMN1-related proximal spinal muscular atrophy (SMA), experts have analysed all aspects of innovative treatments and have drawn up recommendations for good practice: these recommendations are aimed at healthcare professionals, patients themselves (and their families) and insurers, the authors have drawn on a wealth … [Read more]
