Blog Archives
Comprehensive evaluation of structural and functional myocardial impairments in BMD using quantitative CMR imaging
Becker muscular dystrophy (BMD) is a genetic neuromuscular disease characterized by an alteration of the dystrophin protein. Myocardial involvement is frequent, eventually progressing to a dilated cardiomyopathy, and represents the most common cause of death for this pathology. A French-Belgian team involving researchers and clinicians from the Institute of Myology performed a comprehensive evaluation of … [Read more]
Postdoctoral position available at the institute in Trollet/Mouly team
A postdoctoral position is available in to study the causal impact of dietary intake on epigenetic regulation in muscle. We are looking for a highly motivated postdoctoral researcher to join our research team, at the Center of Research in Myology in Paris. Our group, led by Capucine Trollet and Vincent Mouly, study cell and molecular … [Read more]
AAV CRISPR editing rescues cardiac and muscle function for 18 months in dystrophic mice
Adeno-associated virus-mediated (AAV-mediated) CRISPR editing is a revolutionary approach for treating inherited diseases. Sustained, often life-long mutation correction is required for treating these diseases. Unfortunately, this has never been demonstrated with AAV CRISPR therapy. The authors addressed this question in the mdx model of Duchenne muscular dystrophy (DMD). DMD is caused by dystrophin gene mutation. … [Read more]
1st EJP RD Joint Transnational Call for Rare Diseases Research Project (JTC 2019)
The purpose of this call is to encourage scientists from different countries to establish effective cooperation within a joint interdisciplinary research project based on complementarity and sharing of expertise, and with an obvious benefit for patients. These are research projects aimed at accelerating the diagnosis and / or exploring the progression of the disease and … [Read more]
A functional human motor unit platform engineered from human embryonic stem cells and immortalized skeletal myoblasts
Although considerable research on neuromuscular junctions (NMJs) has been conducted, the prospect of in vivo NMJ studies is limited and these studies are challenging to implement. Therefore, there is a clear unmet need to develop a feasible, robust, and physiologically relevant in vitro NMJ model. The authors, including researchers from Vincent Mouly’s team (Myology Centre … [Read more]
Institute seminar – 7 January – Linda Pax Lowes, PT, PhD (USA)
Molecular mechanisms of results of the AVXS 101 Gene Therapy Trial in SMA and measurement lessons learned Monday 7 January 2019 – 12:00-13:00 Linda Pax Lowes, PT, PhD (Nationwide Children’s Hospital, Associate Professor Department of Pediatrics, The Ohio State University, USA) Host : Jean-Yves Hogrel Institute of Myology auditorium Hôpital de la Pitié-Salpêtrière Building Babinski … [Read more]
Differential diagnosis of inflammatory and metabolic myopathies
Muscle weakness is a nonspecific finding of myopathy of any aetiology that include iatrogenic, toxic, endocrinological, infectious, immunologic, and metabolic disorders. Among the metabolic myopathies glutaric aciduria type II (GAII) is an autosomal recessively inherited rare disorder of fatty acid and amino acid metabolisms. The late onset form is heterogeneous in terms of symptomatology and … [Read more]
Injection site reactions after long-term subcutaneous delivery of drisapersen
This retrospective study reviewed the hospital files of a subset of 7 patients with Duchenne muscular dystrophy (DMD) participating in the open-label phase I/II PRO051-02 study in Leuven: the authors aimed to describe the injection site reactions in these children treated with drisapersen (PRO-051), a 2′-O-methyl phosphorothioate RNA antisense oligonucleotide, that induces exon 51 skipping … [Read more]
Off-label use of Ataluren in non-ambulatory nmDMD patients
About 15% of Duchenne muscular dystrophy (DMD) cases are caused by point mutations leading to premature stop codons and disrupted synthesis of the dystrophin protein. Following positive results in ambulatory nmDMD (non-sense mutation Duchenne muscular dystrophy) patients, Ataluren (Translarna® by PTC Therapeutics) received conditional approval in ambulant nmDMD patients. However, there are limited data on … [Read more]
Micro-utrophin improves cardiac and skeletal muscle pathology in D2/mdx mice
There is currently no effective treatment except palliative care for Duchenne muscular dystrophy (DMD), although personalized treatments such as exon skipping, stop codon read-through, and viral-based gene therapies are making progress. Patients present with skeletal muscle pathology, but most also show cardiomyopathy by the age of 10. A systemic therapeutic approach is needed that treats … [Read more]
