Blog Archives
Effect of aerobic anti-gravity exercise in patients with Charcot-Marie-Tooth disease types 1A and X
Charcot-Marie-Tooth (CMT) disease is a hereditary neuropathy associated with impaired walking capacity. Some patients are too weak in the lower extremity muscles to walk at gravity with sufficient intensity or duration to gain benefit. The aim of this pilot study was to investigate the effect of aerobic anti-gravity exercise in weak patients with CMT … [Read more]
Recent recruitments of patients at I-Motion
In Italpharmaco trial (Study to Evaluate the Efficacy and Safety of Givinostat in Ambulant Patients With DMD), first three patients have been screened last days (January 15th, 22nd and 26th, 2018), that is they are included in the selection part of the study. Thereafter, if these patients are eligible, they will be randomized to placebo … [Read more]
Achievements and perspectives – An interview with Marianne Perreau-Saussine
Marianne Perreau-Saussine, General Secretary of the Institute of Myology, highlights the main achievements of the institute during 2017 and outlines the perspectives for 2018. What were the main achievements of the Institute of Myology in 2017? Amongst all of our achievements, and for the organisation of research, I would say the arrival of Bertrand Fontaine, … [Read more]
History and current difficulties in classifying inherited myopathies and muscular dystrophies
The wide spectrum of hereditary muscular disorders leads to unavoidable difficulties in their classification, even for specialists. For this reason, new proposals are required that would ultimately replace our current rather complex classifications by a simpler structure. The proposal presented herein ise limited to dystrophic and non-dystrophic myopathies (excluding metabolic disorders, mitochondriopathies, and channelopathies). … [Read more]
Major European grant for research into rare diseases: Pooling resources for diagnostics of the future
A large consortium led by the University of Tübingen, the Radboud university medical center Nijmegen and the University of Leicester and including in France Eurordis, Orphanet, two major research institutes (Centre de Recherche en Myologie and Institut du Cerveau et de la Moelle épinière) and the Dijon University Hospital, has acquired a € 15 million … [Read more]
Efficacy and safety of adrenocorticotropic hormone gel in refractory dermatomyositis and polymyositis
This open-label, interventional clinical study evaluated the efficacy, safety, tolerability and steroid-sparing effect of repository corticotropin injection (RCI)in refractory adult polymyositis (PM) and dermatomyositis (DM). All patients received RCI of 80 units subcutaneously twice weekly for 24 weeks. The primary end point for the trial was the International Myositis Assessment and Clinical Studies definition … [Read more]
Cost-effectiveness of ERT in adult patients with Pompe disease
Pompe disease is a rare, progressive, metabolic disease, and the first treatable inheritable muscle disorder. Enzyme replacement therapy (ERT) with alglucosidase alfa is disease specific and the only medicinal product authorized for the treatment of Pompe disease. Costs of ERT are very high as for most orphan drugs. This study investigated the cost-effectiveness of … [Read more]
Allele-specific silencing therapy: a promising therapeutic strategy for autosomal‐dominant centronuclear myopathy
Rapid advances in allele-specific silencing by RNA interference established a strategy of choice to cure dominant inherited diseases by targeting mutant alleles. Here, the authors used this strategy for autosomal-dominant centronuclear myopathy (AD-CNM), a rare neuromuscular disorder without available treatment due to heterozygous mutations in the DNM2 gene encoding Dynamin 2. Allele-specific siRNA sequences … [Read more]
Myotubular Myopathy: positive interim data of a phase I / II clinical trial with a gene therapy product developed by Genethon
Audentes Therapeutics, a biotechnology company, launched the first gene therapy clinical trial in children with myotubular myopathy disease using a gene therapy product designed at Genethon. At the 12-week timepoint, the first 3 children treated show early signs of efficacy. With the support of the AFM-Téléthon and the Myotubular Trust, Dr Ana Buj-Bello led the … [Read more]
A novel platform for complex gene transfer into clinically relevant human muscle progenitors for DMD gene therapy
Transferring large or multiple genes into primary human stem/progenitor cells is challenged by restrictions in vector capacity, and this hurdle limits the success of gene therapy. A paradigm is Duchenne muscular dystrophy (DMD), an incurable disorder caused by mutations in the largest human gene: dystrophin. The combination of large-capacity vectors, such as human artificial … [Read more]
