Myology research highlights

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]

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]

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]

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]

The detailed program of the Myology 2019 congress to be held from 25 to 28 March 2019 in Bordeaux is now online. The congress begins on Monday with the opening ceremony followed by the opening conference. For the following days, each half-day consists of a plenary session and two parallel sessions. On Tuesday afternoon, the … [Read more]

A team from the Institute of Myology has developed, in collaboration with a team from the Sorbonne University and the French Public Health and Hospital system, a non-invasive method to evaluate the function of the diaphragm, the main breathing muscle. This new method could represent an alternative to standard invasive methods, which rely on the … [Read more]

Dynamin 2 (DNM2) is a key protein of the endocytosis and intracellular membrane trafficking machinery. Mutations in the DNM2 gene cause autosomal dominant centronuclear myopathy (CNM) and a knock-in mouse model expressing the most frequent human DNM2 mutation in CNM (Knock In-Dnm2R465W/+) develops a myopathy sharing similarities with human disease. Using isolated muscle fibres from … [Read more]

There is currently no treatment for myotonic dystrophy type 1 (DM1), the most frequent myopathy of genetic origin. This progressive neuromuscular disease is caused by nuclear-retained RNAs containing expanded CUG repeats. These toxic RNAs alter the activities of RNA splicing factors, resulting in alternative splicing misregulation. By combining human mutated pluripotent stem cells and phenotypic … [Read more]

In this study, the authors examined the efficacy and safety of the therapeutic regimen using oral and intravenous L-arginine for pediatric and adult patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). In the presence and absence of an ictus of stroke-like episodes within 6 h prior to efficacy assessment, we correspondingly conducted … [Read more]

Duchenne Muscular Dystrophy (DMD) is the most prevalent dystrophy of childhood and is characterized by generalized motor delays due to progressive muscular weakness, leading to loss of muscle mass. Additionally, patients with DMD develop obesity, hyperinsulinemia, and Insulin Resistance (IR). Omega-3 Long-Chain PolyUnsaturated Fatty Acids (Ω-3LCPUFA) increase fat mass, decrease lean mass, and decrease hyperinsulinemia … [Read more]