Myology research highlights
RSS feedFDA grants Fast Track designation to Akashi Therapeutics’ HT-100 for treatment of DMD
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 DMD drug moves forward to phase 1 clinical trial
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]
Melusin chaperone overexpression delays the onset of Emery-Dreifuss cardiomyopathy
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 burden of Duchenne muscular dystrophy: An international, cross-sectional study
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]
Early decreasing ovarian function in women with myotonic dystrophy
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]
The exosomal pathway plays a central role in neurodegenerative diseases
The exosome is a multi-protein complex, required for the degradation of AU-rich element (ARE) containing messenger RNAs (mRNAs). EXOSC8 is an essential protein of the exosome core, as its depletion causes a severe growth defect in yeast. Here the authors show that homozygous missense mutations in EXOSC8 cause progressive and lethal neurological disease in 22 … [Read more]
Sporadic inclusion body myositis: the genetic contributions to the pathogenesis
Sporadic inclusion body myositis (sIBM) is the commonest idiopathic inflammatory muscle disease in people over 50 years old. It is characterized by slowly progressive muscle weakness and atrophy, with typical pathological changes of inflammation, degeneration and mitochondrial abnormality in affected muscle fibres. The cause(s) of sIBM are still unknown, but are considered complex, with the … [Read more]
Evaluation and construction of diagnostic criteria for inclusion body myositis
The objective of this study was to use patient data to evaluate and construct diagnostic criteria for inclusion body myositis (IBM), a progressive disease of skeletal muscle. The literature was reviewed to identify all previously proposed IBM diagnostic criteria. These criteria were applied through medical records review to 200 patients diagnosed as having IBM and … [Read more]
Antititin antibody in early- and late-onset myasthenia gravis
Myasthenia gravis (MG) is an autoimmune disease caused by antibodies against neuromuscular junction proteins, 85% of patients have antibodies against acetylcholine receptor (AChR-MG). Antititin antibodies are present in a subset of patients with MG. This study aimed to determine the value of antititin antibodies as severity markers and thymoma predictors in early- and late-onset MG. … [Read more]
Exon skipping restores dystrophin expression, but fails to prevent disease progression at advanced stage
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]
