Myology research highlights

BioMarin Pharmaceutical Inc. will start a late-stage study by the end of this year for patients with the rare and fatal muscular disorder Pompe disease. The decision to move into a Phase II/III program follows a Phase I/II study that showed that patients who received BioMarin’s drug, called BMN-701, were able to walk a longer … [Read more]

DART Therapeutics Inc. is a company focused on developing therapies for Duchenne muscular dystrophy (DMD). The company is currently developing a drug candidate obtained from Belgium-based Galapagos NV. In early studies, the drug candidate, renamed DT-200, demonstrated significant potential to increase muscle size and strength in DMD patients. The drug candidate, a selective androgen receptor … [Read more]

Early-onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD) is a myopathic disorder associated with mutations in MEGF10. Following identification of a novel homozygous deletion of exon 7 in MEGF10, the authors of this study diagnosed a 10 year-old girl with EMARDD by novel analysis of SNP array hybridization and exome sequence coverage. In contrast to … [Read more]

A newly defined congenital myasthenic syndrome (CMS) caused by DPAGT1 mutations has recently been reported. While many other CMS-associated proteins have discrete roles localised to the neuromuscular junction, DPAGT1 is ubiquitously expressed, modifying many proteins, and as such is an unexpected cause of isolated neuromuscular involvement. In this publication, the authors present detailed clinical characteristics … [Read more]

Coats syndrome is a rare extramuscular complication of facioscapulohumeral muscular dystrophy type 1 (FSHD1) associated with large D4Z4 contractions. This study was carried out to investigate the frequency of Coats syndrome and its association with D4Z4 contraction size in patients with FSHD1. The authors searched a North American FSHD registry and the University of Rochester … [Read more]

Scoliosis in people with Duchenne muscular dystrophy is usually progressive and treated with surgery. However, it is unclear whether the existing evidence is sufficiently scientifically rigorous to support a recommendation for spinal surgery for most people with Duchenne muscular dystrophy and scoliosis. This is an updated review and an updated search was undertaken in which … [Read more]

Mutations in several known or putative glycosyltransferases cause glycosylation defects in α-dystroglycan (α-DG), an integral component of the dystrophin glycoprotein complex. The hypoglycosylation reduces the ability of α-DG to bind laminin and other extracellular matrix ligands and is responsible for the pathogenesis of an inherited subset of muscular dystrophies known as the dystroglycanopathies. By exome … [Read more]

The β-tropomyosin gene encodes a component of the sarcomeric thin filament. Rod-shaped dimers of tropomyosin regulate actin-myosin interactions and β-tropomyosin mutations have been associated with nemaline myopathy, cap myopathy, Escobar syndrome and distal arthrogryposis types 1A and 2B. In this study, the authors expand the allelic spectrum of β-tropomyosin-related myopathies through the identification of a … [Read more]

Duchenne muscular dystrophy (DMD) displays a clinical range that is not fully explained by the primary DMD mutations. Ltbp4, encoding latent transforming growth factor-β binding protein 4, was previously discovered in a genome-wide scan as a modifier of murine muscular dystrophy. In this study, the authors sought to determine whether LTBP4 genotype influenced DMD severity … [Read more]

Biomarkers are critically important for disease diagnosis and monitoring. In particular, close monitoring of disease evolution is eminently required for the evaluation of therapeutic treatments. Classical monitoring methods in muscular dystrophies are largely based on histological and molecular analyses of muscle biopsies. Such biopsies are invasive and therefore difficult to obtain. The serum protein creatine … [Read more]