Myology research highlights
RSS feedUS team shows feasibility of gene therapy in mice for CMD 1D
A team from the University of Iowa has investigated the effectiveness of gene therapy in advanced stages of muscular dystrophy. The researchers injected an AAV2/9 CMV Large 1 into 14 mice, averaging 38 weeks of age, which are models of congenital muscular dystrophy 1D (CMD 1D) linked to the LARGE 1 gene. Treated mice show … [Read more]
Results of a Cure SMA survey on patient participation in clinical trials
Feedback from participants in a clinical trial in SMA was collected through a survey conducted by the American association Cure SMA. Analysis of the results of 70 questionnaires showed : a positive experience of participating in a clinical trial by patients, motivational factors related to the accessibility of a drug, potential clinical benefit, help for … [Read more]
The first participant with FSH was included in the REACH phase III trial of losmapimod
The oral drug losmapimod has been shown to slow the progression of facioscapulohumeral myopathy (FSH) in the phase II ReDUX4 trial. The phase III trial of losmapimod will evaluate its safety and efficacy over a 48-week period. The trial is randomised, double-blind and placebo-controlled and is expected to enrol 230 adult participants with FSH1 or … [Read more]
Acceleron abandons development of ACE-083 in FSH
Facioscapulohumeral muscular dystrophy (FSH or FSHD) is characterised by a selective muscle deficit (muscles of the face, shoulders and arms). This characteristic was an advantage to candidate for evaluating the efficacy of ACE-083, a molecule developed by the Acceleron laboratory, which, when administered intramuscularly, has a local anti-myostatin action. In 2016, a phase II clinical … [Read more]
The Institute’s clinicians and researchers in force at the ICNMD 2022 conference in Brussels
The International Congress on Neuromuscular Diseases (ICNMD) was held in Brussels from 5 to 9 July 2022. The Institute of Myology was very well represented, both in terms of clinical and fundamental research. Prof. Bertrand Fontaine, Dr. Giorgia Querin as well as Marc Bitoun and Piera Smeriglio, team leaders at the Institute’s Myology Research Centre, … [Read more]
Muscle regeneration affects AAV vector transcription
As part of the research on the molecular mechanisms that impact AAV vector expression in pathological muscle, the group of Sofia Benkhelifa-Ziyyat (research project leader/AIM) and Stéphanie Lorain (currently project leader/AFM) from the Institute’s Myology Centre for Research evaluated the impact of the necrosis-regeneration process on AAV vector expression efficiency in Duchenne muscle. This study … [Read more]
A major 13-year study of preconception counselling and prenatal diagnosis in FSH
A retrospective study on the requests for preconception consultation or prenatal diagnosis made between January 2008 and December 2020 to the Genetic Counselling Service associated with the Italian National Registry of Facioscapulohumeral Myopathy (FSH) showed that : 60 couples requested a preconception consultation for FSH, which highlighted at least one of the future parents with … [Read more]
Initial findings from the European registry for Lambert-Eaton syndrome
Lambert-Eaton syndrome is an ultra-rare presynaptic myasthenic syndrome of autoimmune origin. A European registry has been established with the support of the pharmaceutical industry and has identified 96 patients followed in 30 clinical centres: three-quarters of them were receiving specific treatment in the form of 3-4-DAP (3-4 didydro-aminopyridine) or one of its derivatives, 3-4 DAPP, … [Read more]
A setback in the use of monoclonal antibodies in FOP
Fibrodysplasia ossificans progessiva (FOP) is an ultra-rare disease caused by a mutation, almost always identical, in the ACVR1 gene. This gene encodes a type I bone morphogenetic protein (BMP) receptor. The clinical picture includes outbreaks of heterotopic ossification in the muscles, leading to true ankylosis. Among the many therapeutic avenues considered, the specific blocking of … [Read more]
An unexpected side effect of SMA gene therapy
Side effects of the onasemnogene abeparvovec (OA), the gold standard for gene therapy of infants with SMA, are rare but potentially worrying. Italian clinicians report the case of a child diagnosed at three weeks of age, treated first with nusinersen and then with OA at 5.5 months of age. The patient presented a febrile episode … [Read more]
