Blog Archives
Novel dystrophin expression following long-term treatment with eteplirsen
This study describes the quantification of novel dystrophin production in patients with Duchenne muscular dystrophy (DMD) after long-term treatment with eteplirsen. Clinical study 202 was an observational, open-label extension of the randomized, controlled study 201 assessing the safety and efficacy of eteplirsen in patients with DMD with a confirmed mutation in the DMD gene … [Read more]
Release of the 67th newsletter from the Institute
Welcome to our 67th newsletter! Remember! In 2009, Martine Barkats, then at Genethon, demonstrated in mice the efficacy of the vector and its systemic administration in the central nervous system to treat spinal muscular atrophy. Thanks in particular to this work (license agreement Genethon-AveXis announced last March 14th), AveXis is now developing a gene … [Read more]
Significant reduction in examination time and user interaction with an automated whole-body MRI workflow
This prospective study aimed to evaluate the performance of an automated workflow for whole-body magnetic resonance imaging (WB-MRI), which reduces user interaction compared with the manual WB-MRI workflow. Twenty patients underwent WB-MRI for myopathy evaluation on a 3 T MRI scanner. Ten patients (7 women; age, 52 ± 13 years; body weight, 69.9 ± 13.3 … [Read more]
Refining the phenotype associated with MuSK-related CMS
Congenital myasthenic syndrome (CMS) is a heterogeneous disorder that causes fatigable muscle weakness. CMS has been associated with variants in the MuSK gene and, to date, 16 patients have been reported. MuSK-CMS patients present a different phenotypic pattern of limb girdle weakness. Here, the authors describe four additional patients and discuss the phenotypic and clinical … [Read more]
Third year bachelor’s degree students trained in myology
Since the creation of the Institute of Myology, its members have been involved in teaching science and medicine, with over 800 hours of lectures per year. These hours include participation in more than 20 university or inter-university diplomas. However, for the first time this year, an optional unit dedicated to myology was proposed to third … [Read more]
Detailed clinical characterisation of congenital titinopathy
The authors of this study performed a comprehensive clinical characterisation of congenital titinopathy to facilitate diagnosis and management of this important emerging disorder. They used massively parallel sequencing to identify 30 patients from 27 families with two pathogenic nonsense, frameshift and/or splice site TTN mutations in trans. They then undertook a detailed analysis of the … [Read more]
Clostridium difficile cure with fecal microbiota transplantation in a child with Pompe disease
Recurrent Clostridium difficile infection is a growing problem among children due to both the increasing survival of medically fragile children with complicated chronic medical conditions resulting in prolonged antibiotic exposure and hospitalization and the emergence of strains of Clostridium difficile that are hypervirulent and associated with high rates of relapse. This case describes a medically … [Read more]
Institute seminar – June 11th – Penney M. Gilbert (Canada)
Making 3D models that matter: Engineering human skeletal muscle tissue in a dish Monday 11 June 2018 – 12:00 Penney M. Gilbert, Ph.D. (Assistant Professor, Institute for Biomaterials and Biomedical Engineering, Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, Ontario, CANADA) Host : Fabien Le Grand Special invitation for students and … [Read more]
Serum proteomic analysis to follow DMD and BMD disease progression
Analysis of muscle biopsies allowed to characterize the pathophysiological changes of Duchenne and Becker muscular dystrophies (D/BMD) leading to the clinical phenotype. Muscle tissue is often investigated during interventional dose finding studies to show in situ proof of concept and pharmacodynamics effect of the tested drug. Less invasive readouts are needed to objectively monitor patients’ … [Read more]
Institute seminar – June 4th – Terry Partridge (USA)
Analysis of the dynamics of muscle growth, hypertrophy and regeneration in mouse and man Monday 4 June 2018 – 12:00 Terry Partridge (Children’s National Medical Center · Center for Genetic Medicine Research, Washingthon D.C., USA) Host : Gill Butler-Browne Special invitation for students and post-docs only: Terry Partridge will take time with you, right after … [Read more]
