Blog Archives
Assessment of fatigability in patients with SMA: development and content validity of a set of endurance tests
Fatigability has emerged as an important dimension of physical impairment in patients with Spinal Muscular Atrophy (SMA). At present reliable and valid outcome measures for both mildly and severely affected patients are lacking. Therefore the primary aim of this study is the development of clinical outcome measures for fatigability in patients with SMA across the … [Read more]
Exercise in Myositis
A growing body of evidence supports exercise as a very important part of the treatment for adult patients with idiopathic inflammatory myopathies (IIM). This review mainly focuses on exercise studies published during the last 2 years in adult myositis. During the last couple of years, new publications present further evidence for intensive endurance exercise as an … [Read more]
Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients
Limb-girdle muscular dystrophies (LGMDs), one of the most heterogeneous neuromuscular disorders (NMDs), involves predominantly proximal-muscle weakness with >30 genes associated with different subtypes. The clinical-genetic overlap among subtypes and with other NMDs complicate disease-subtype identification lengthening diagnostic process, increases overall costs hindering treatment/clinical-trial recruitment. Currently seven LGMD clinical trials are active but still no gene-therapy-related … [Read more]
Institute seminar – 11 March – Evelyne Bloch-Gallego (France)
Integrators for guidance cues in the development of the central nervous system: roles of Trio-GEF and Rho GTPases Monday 11 March 2019 – 12:00-13:00 Evelyne Bloch-Gallego (DR2 – INSERM, Développement Neuromusculaire, Génétique et Physiopathologie, Institut Cochin – Inserm U1016 – Cnrs UMR8104 – Université Paris Descartes, Paris, France) Host : Laure Stochlic Institute of Myology auditorium … [Read more]
Marie Gaille at the Institute’s Ethics Meetings – March 19
As part of the Institute of Myology’s Ethics Meetings, the Think Tank in Applied Ethics presents: THE ETHICAL DILLEMMA OF PREMATURE SCREENING OF GENETIC DISEASES DURING THE ASYMPTOMATIC PHASE “Sharing the uncertainty, and beyond? ?” Speaker, Marie Gaille Doctor of Philosophy Centre de recherche sens, éthique, société CNRS – Université Paris Descartes … [Read more]
Preliminary results for microdystrophin SGT-001 gene therapy trial in DMD
A modest production of dystrophin from 3 muscular biopsies in three participates in a phase I/II trial, IGNITE-DMD, after 3 months of treatment with SGT-001. SGT-001, developed by the Solid Biosciences organization, a gene therapy medicine candidate that uses the microdystrophin gene. A phase I/II clinical trial (IGNITE DMD), currently ongoing in the United States, … [Read more]
A phase I study of TAS-205 in patients with DMD
Currently, the only approved standard Duchenne muscular dystrophy (DMD) treatment in Japan is oral steroids, which have various disadvantages. Previous work has suggested that hematopoietic-type prostaglandin D synthase (HPGDS), involved in production of the inflammatory mediator prostaglandin D2 (PGD2), might have a role in DMD pathology. Authors therefore investigated the safety, pharmacokinetics (PK), and pharmacodynamics … [Read more]
The paralympic champion Marie-Amelie Le Fur visits the institute
The Myology Institute welcomes Marie-Amelie Le Fur, president of the French Paralympics and Sports Committee for Paris 2024. An « inspiring » visit for the athlete. On Thursday, the 21st of February, Marie-Amelie Le Fur, multi-champion and president of the Paralympics and Sports Committee for Paris 2024, visited the Myology institute. What is Myology? How … [Read more]
SMA Europe – Call for SMA Research Projects 2019
SMA Europe is pleased to announce its 10th international Call for SMA Research Projects. This new Call for SMA Projects will be open to any research project aimed at finding a therapy for Spinal Muscular Atrophy (SMA) or at elucidating the basic pathophysiological processes of the disease. The online application portal will be accessible from … [Read more]
French expert opinion for the management of juvenile dermatomyositis
A guideline group consisting of a pediatric rheumatologist, internists, rheumatologists, immunologists, a physiotherapist and a patient expert elaborated guidelines related to the management of juvenile dermatomyositis on behalf of the rare autoimmune and autoinflammatory diseases network FAI2R (French Network of rare autoimmune, auto inflammatory diseases). A systematic search of the literature published between 2000 and … [Read more]
