Blog Archives
Kennedy disease is at least four times more common
The search for CAG expansion in the AR gene that encodes the androgen receptor using the ExpansionHunter computer tool (a “expansion tracker”) in the genomes of 74,277 unrelated individuals shows a mutation frequency of 1/3,182 X chromosomes. Based on this mutation frequency in the general population, the calculation of the prevalence of Kennedy’s disease increases … [Read more]
ERN EURO-NMD webinar, 27th Apr. – Dr. Nicole B.M. Voet (The Netherlands)
Fatigue in Neuromuscular Disorders 27th April 2023 at 16:00 Paris Time Dr. Nicole B.M. Voet (Radboud University Medical Center, the Netherlands) Registration: https://zoom.us/webinar/register/WN_CsaIEW5SQxyBoNKC5sYwbA Organised by EURO-NMD in collaboration with ERN-RND.
Treated myasthenia can still cause significant difficulties in everyday life
The international MyRealWorldMG study collects real-life data from adults with autoimmune myasthenia undergoing treatment. Each month, they answer different patient-reported outcome measures (PROM), specific or not to myasthenia: EQ-5D-5L, MG-ADL, MG-QoL-15r… Preliminary data from the first 834 participants show that: the results of the different PROMs are consistent and show a significant impact of the … [Read more]
Distal Udd titinopathy: a 15-year natural history
A Finnish retrospective study included data from 137 individuals with distal dominant myopathy, linked to the FINmaj mutation in the TTN gene, followed for 15 years. The results show that: the first symptoms appeared before 55 years of age in 109 of them (79.5%) (including five before 35 years of age) and after 55 years … [Read more]
Abatacept has variable success in refractory myositis
The AID trial evaluated the addition of abatacept to standard therapy in 10 participants aged seven to 17 years with refractory juvenile dermatomyositis in an open-label setting in the United States. The results showed: a significant improvement in most of the evaluation criteria (muscle testing, skin disease activity, fatigue…) in nine participants after 24 weeks … [Read more]
NEB gene-related nemaline myopathy: description of a cohort of 33 patients
A cross-sectional study of 33 North American and Brazilian patients with NEB gene-related nemaline myopathy, aged two to 59 years, was published in January 2023. The onset of the disease was congenital in the vast majority of cases (94%), infantile in two cases. All patients had an ogival palate. Fourteen (46%) had scoliosis, which was … [Read more]
Gene therapy confirms its efficacy in the mouse model of limb-girdle muscular dystrophy related to SGCG
A study sponsored by Sarepta Therapeutics investigated the safety and efficacy of SRP-9005 (rAAVrh74 vector), one of their gene therapy products, when injected intravenously into the mouse model of GIST-related limb-girdle muscular dystrophy (LGMD R5). Twelve weeks after administration of a minimum dose of 4.63 x 1012 vg/kg, the analyses show : good tolerance of … [Read more]
Mixed results for givinostat in Becker myopathy
A phase II, double-blind, placebo-controlled clinical trial evaluated the efficacy and safety of givinostat in 51 adults with Becker muscular dystrophy (BMD). According to the results after one year of treatment, published in January 2023 : givinostat had no effect on total muscle fibrosis, the primary endpoint of this study. magnetic resonance imaging (MRI) showed … [Read more]
M&M’s – Muscle Monday Seminar – 17 April – Prof. Pamela Shaw (UK)
Motor neuron disease: a neurodegenerative disorder poised for successful therapy development April 17th, 2023 – 12:00 – 13:00 Professor Dame Pamela Shaw (Professor of Neurology, Honorary Consultant Neurologist, Sheffield Teaching Hospitals NHS Foundation Trust, Director of the Sheffield Institute for Translational Neuroscience (SITraN), Director NIHR Sheffield Biomedical Research Centre, Director of the cross-faculty Neuroscience Research Institute … [Read more]
Quality of life of patients dependent on ventilatory support
The AFM-Telethon teams conducted a study of 119 patients with neuromuscular diseases (mainly Duchenne muscular dystrophy but also limb-girdle muscular dystrophy, congenital muscular dystrophy, proximal spinal muscular atrophy, etc.) and dependent on ventilatory support. More than two thirds of the patients (81 participants) rated their quality of life as good or even excellent and 4 … [Read more]
