Blog Archives
DMD: I-Motion includes patients in the phase I trial of a new molecule
Dr. Teresa Gidaro is the principal investigator for France in the multicentre, WAVE trial that launched in June at I-Motion. This phase I international trial also includes sites from the United Kingdom, the United States and Belgium, where Laurent Servais is the principal investigator at his site in Liège. What is the new molecule investigated … [Read more]
High Risk of Fatal and Nonfatal Venous Thromboembolism in Myotonic Dystrophy
Myotonic dystrophy (MD), the most common inherited myopathy, is associated with high cardiovascular mortality. A preliminary analysis of the DM1 Heart Registry, a comprehensive database that captures information relative to the cardiac management of adults presenting to our center with MD, revealed a high prevalence of venous thromboembolism (VTE). Clinicians from the Institute of Myology … [Read more]
Postdoctoral position available at the Institute of Myology
A postdoctoral position is available in the team of Gisèle Bonne (Myology Centre for Research) in the context of a research project supported by MD-UK aiming at the identification of potential genetic modifiers modulating the diseases severity of LMNA-congenital muscular dystrophy and related striated muscle laminopathies using multi-omics approaches. The team has a long standing … [Read more]
Urinary titin: a non-invasive biomarker for DMD?
Early detection of Duchenne muscular dystrophy (DMD) by mass screening may enable the early treatment of these patients. Here, the authors report that urinary titin concentration, an indicator of severe muscle wasting, is a diagnostic biomarker for DMD. Urinary titin concentrations were measured in healthy 3-year-old children and, by comparison with concentrations in 4 DMD … [Read more]
229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification
This workshop on the classification and nomenclature of the LGMDs aimed to i) reach consensus on an updated definition of LGMD and to evaluate current subtypes of LGMD by application of the updated definition; ii) review and evaluate suggestions of potential new classifications of LGMD subtypes; iii) reach consensus on the most useful nomenclature and … [Read more]
Myositis: A new classification system based on phenotypic, biological and immunological criteria
Four types of myositis that consider all the clinical criteria of patients have been defined. A new classification that paves the way for reliable diagnosis and personalised treatments for patients. Affecting between 3,000 and 5,000 people in France, myositis (or inflammatory myopathies) is a group of rare autoimmune muscle diseases. Until now, three types of … [Read more]
Medical research assistant position available at the Institute of Myology
Within the EU-H2020 Solve-RD project “Solving the unsolved Rare Diseases” a medical research assistant position is available in the team of Gisèle Bonne. The main ambitions of the Solve-RD proposal are (i) to solve large numbers of Rare Disease cases, for which a molecular cause is not known yet, by combined Omics approaches, (ii) to … [Read more]
Baseline data from the NatHis-SMA study
There is currently a concerted effort to define the natural history of the disease and develop outcome measures that accurately capture the complexity of spinal muscular atrophy (SMA). As several therapeutic strategies are currently under investigation and both the FDA and EMA have recently approved the first medical treatment for SMA, there is a critical … [Read more]
Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophy
Carey-Fineman-Ziter syndrome (CFZS) is an autosomal recessive inherited disorder. Clinically, patients are described as having non-progressive congenital myopathy with marked facial weakness, together with other clinical attributes such as Moebius and Pierre Robin sequence, facial abnormalities, and growth delay. Recently, autosomal recessive mutations in the gene myomaker (MYMK/TMEM8C) were found to be associated with CFZS. … [Read more]
An observational study of functional abilities in patients with type 1 SMA
This observational study describes cross-sectional clinical findings in 122 patients, aged between 3 months and 22 years, affected by type 1 spinal muscular atrophy (SMA). Patients were classified according to the severity of phenotype and to the number of SMN2 copies. Patients with the more common and the most severe phenotype older than 2 years … [Read more]
