Myology research highlights

In a May 13, 2014, webcast, Sarepta Therapeutics summarized its plans for eteplirsen and other experimental exon-skipping compounds it has in development to treat Duchenne muscular dystrophy; eteplirsen targets exon 51 of the dystrophin gene and could provide a treatment for 13% of the DMD population. Sarepta will apply to the U.S. Food and Drug … [Read more]

Reversing an earlier negative opinion, the European Medicines Agency (EMA) Committee for Medicinal Products for Human Use (CHMP) gave a qualified endorsement this week to marketing of ataluren (Translarna, PTC Therapeutics) to treat Duchenne muscular dystrophy (DMD). In the drug’s phase IIb and phase III trials, boys with DMD failed to show statistically significant improvements … [Read more]

Autosomal dominant (AD) central core disease (CCD) is a congenital myopathy characterised by the presence of cores in the muscle fibres which correspond to broad areas of myofibrils disorganisation, Z-line streaming and lack of mitochondria. Heterozygous mutations in the RYR1 gene were observed in the large majority of AD-CCD families; however, this gene was excluded … [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]

This study aimed to determine whether phosphodiesterase type 5 (PDE5) inhibition can alleviate exercise-induced skeletal muscle ischemia in boys with Duchenne muscular dystrophy (DMD). In 10 boys with DMD and 10 healthy age-matched male controls, the authors assessed exercise-induced attenuation of reflex sympathetic vasoconstriction, i.e., functional sympatholysis, a protective mechanism that matches oxygen delivery to … [Read more]

Diagnosis of muscular dystrophies is currently based on invasive methods requiring muscle biopsies or blood tests. The aim of the present study was to identify urinary biomarkers as a diagnostic tool for muscular dystrophies. Here, the urinary proteomes of Duchenne muscular dystrophy (DMD) patients and healthy donors were compared with a bottom-up proteomic approach. Label-free … [Read more]

Array Comparative Genomic Hybridization (aCGH) has progressively replaced conventional karyotype in the diagnostic strategy of intellectual disability (ID) and congenital malformations. This technique increases the diagnostic rate but also the possibility of finding unexpected variants unrelated to the indication of referral, namely incidental findings. The incidental finding of CNVs located in X-linked genes in girls … [Read more]

A phase I, single-site, dose escalation study to evaluate the safety and efficacy of gene transfer therapy in infants with for Spinal Muscular Atrophy Type 1 (SMA1) who are 9 months old or younger has opened at Nationwide Children’s Hospital in Columbus, Ohio. A total of nine patients will be randomly assigned to receive either … [Read more]

This study aimed to clarify the phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathies. The authors screened for TRPV4 mutations in 169 French unrelated patients with inherited axonal peripheral neuropathy. Ninety-five patients had dominant Charcot-Marie-Tooth type 2 (CMT2) disease, and 74 patients, including 39 patients with distal hereditary motor neuropathy, … [Read more]

Necrotizing autoimmune myopathy (NAM) is a group of acquired myopathies characterized by prominent myofiber necrosis with little or no muscle inflammation. Recently, researchers identified autoantibodies (aAb) against 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) in patients with NAM, especially in statin-exposed patients. Here, the authors report what is to their knowledge, the first European cohort of patients with … [Read more]