Blog Archives
US 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 Institute is recruiting a Senior Project Manager (M/F) for the European Reference Network (ERN) EURO-NMD
ERN EURO-NMD European Reference Networks (ERNs) are networks involving centers of expertise and health care providers across Europe. They aim to tackle complex or rare diseases and conditions that require highly specialized treatment, as well as a concentration of knowledge and resources. Established in 2017 and co-funded by the European Commission, EURO-NMD is a European … [Read more]
DM1: RNA toxicity alters astrocyte morphology, adhesion and migration – Interview with Mario Gomes-Pereira
Mario Gomes-Pereira and his team* have just published a paper in Nature Communications** on the toxicity of mutant RNA that alters the morphology, adhesion and migration of astrocytes in mice and humans with myotonic dystrophy type 1 (DM1). Interview with Mario Gomes-Pereira. What is the background to this work? DM1 is a neuromuscular disease … [Read more]
Report of the 2022 AcadeMYO session – Interview with Andoni Urtizberea
Andoni Urtizberea reports on the 2022 session of AcadeMYO, the fully virtual version of the Institute’s Myology Summer School, which was held from 11 to 13 July. What was the profile of the students who participated this year? We had 44 registered participants from 27 countries: Chile, Argentina, Brazil, Colombia, Russia, Latvia, USA, Canada, Australia, … [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]
Impact of frontal lobe damage on social dysfunction in DM1
Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystemic disease that affects muscular and extra-muscular systems, including the central nervous system. Brain damage in DM1 is associated with subtle cognitive and behavioural disorders, with a major impact on socio-professional adaptation. This French study, involving clinicians from the Institute of Myology, included 28 adult patients … [Read more]
New TMP3 variant: the phenotypic range of TMP3-related congenital myopathy expands
Mutations in the tropomyosin 3 (TPM3) gene are associated with autosomal dominant and recessive nemaline 1 (NEM1) myopathy, congenital myopathy with disproportionate muscle fibre types and cap myopathy. This French-Chilean study reports the case of a 47-year-old man with polycythemia, restricted vital capacity and mild apnea/hypopnea syndrome, requiring non-invasive ventilation. Various additional examinations were … [Read more]
