Myology research highlights

Antisense therapy with both chemistries of phosphorodiamidate morpholino oligomers (PMOs) and 2′-O-methyl phosphorothioate has demonstrated the capability to induce dystrophin expression in Duchenne muscular dystrophy (DMD) patients in phase II-III clinical trials with benefit in muscle functions. However, potential of the therapy for DMD at different stages of the disease progression is not understood. This … [Read more]

Duchenne muscular dystrophy (DMD) is still an untreatable lethal X-linked disorder affecting1 in 3500 male births. It is caused by the absence of muscle dystrophin due to mutations in the dystrophin gene. The potential regenerative capacity as well as immune privileged properties of mesenchymal Stem Cells (MSC) has been under investigation for many years in … [Read more]

Ullrich congenital muscular dystrophy (UCMD) is an inherited muscle disorder characterized clinically by muscle weakness, distal joint hyperlaxity, and proximal joint contractures. Sporadic and recessive mutations in the three collagen VI genes, COL6A1, COL6A2, and COL6A3, are reported to be causative. In the sporadic forms, a heterozygous point mutation causing glycine substitution in the triple … [Read more]

To monitor treatment effects in patients with congenital myopathies and congenital muscular dystrophies, valid outcome measures are necessary. In this observational study based on data previously collected from several cohorts, the Motor Function Measure (MFM) was examined for robustness and changes are proposed for better adequacy. A total of 289 patients aged 5 to 77 … [Read more]

In this article, the author discusses the case for systematic genetic screening of newborns and children at-risk of developing or carrying mutations for Duchenne Muscular Dystrophy (DMD). Belgium remains the only country to conduct systematic newborn screening and follow-up testing for DMD. Germany, Wales and Canada have abandoned DMD routine genetic testing and the US … [Read more]

The U.S. Food and Drug Administration (FDA) has granted Fast Track designation to Akashi Therapeutics’ most advanced product candidate, HT-100 (delayed-release halofuginone), an orally available, small molecule drug candidate intended to reduce fibrosis and inflammation and promote healthy muscle regeneration in boys with DMD. Fast track designation is granted by the FDA to facilitate the … [Read more]

ReveraGen BioPharma is moving ahead with a phase 1 trial of an experimental drug in development, VBP15, to treat Duchenne muscular dystrophy (DMD). The drug, will be evaluated for safety in healthy people in this phase 1 study. VBP15 is an experimental compound intended to replicate the benefits of corticosteroid drugs like prednisone and deflazacort, … [Read more]

Familial cardiomyopathies are caused by genetic mutations that induce accumulation of misfolded proteins with consequent cardiomyocyte death and maladaptive cardiac remodelling. Molecular chaperones are a family of proteins devoted to prevent accumulation of misfolded proteins by promoting either their refolding or degradation via the ubiquitin-proteasome or the autophagosome systems and can thus represent a potential … [Read more]

The objective of this study was to estimate the total cost of illness and economic burden of Duchenne muscular dystrophy (DMD). Patients with DMD from Germany, Italy, United Kingdom, and United States were identified through Translational Research in Europe-Assessment & Treatment of Neuromuscular Diseases registries and invited to complete a questionnaire online together with a … [Read more]

Myotonic dystrophy (DM) is the most common form of muscular dystrophy in adults. There are conflicting reports about its effect on female fertility. This study investigated ovarian reserve and IVF-preimplantation genetic diagnosis (PGD) outcome in women with DM1. A total of 21 women undergoing PGD for DM1 were compared with 21 age- and body mass … [Read more]