Myology research highlights

Researchers from the Institute of Myology recently demonstrated the remarkable efficiency of self-complementary (sc) AAV9 vectors for central nervous system (CNS) gene transfer following intravenous delivery in mice and larger animals. In this article, the same researchers investigated whether gene delivery to motor neurons (MNs) could also be achieved via intramuscular (i.m.) scAAV9 injection and … [Read more]

Pontocerebellar hypoplasia with spinal muscular atrophy, also known as PCH1, is a group of autosomal recessive disorders characterized by generalized muscle weakness and global developmental delay commonly resulting in early death. Gene defects had been discovered only in single patients until the recent identification of EXOSC3 mutations in several families with relatively mild course of … [Read more]

Edison Pharmaceuticals has started a phase 2B study, which will investigate new treatments for Friedreich’s ataxia. The trial is entitled Safety and Efficacy Study of EPI-743 on Visual Function in Patients with Friedreich’s Ataxia. It is placebo-controlled and will last six months, before an extension phase begins where subjects will receive EPI-743. Those contributing to … [Read more]

The knockdown of myostatin, a negative regulator of skeletal muscle mass may have important implications in disease conditions accompanied by muscle mass loss like cancer, HIV/AIDS, sarcopenia, muscle atrophy, and Duchenne muscular dystrophy (DMD). In DMD patients, where major muscle loss has occurred due to a lack of dystrophin, the therapeutic restoration of dystrophin expression … [Read more]

This prospective longitudinal observational study carried out across 17 neuromuscular centres in the UK study aimed to assess the current use of glucocorticoids (GCs) in Duchenne muscular dystrophy (DMD) and compare the benefits and the adverse events of daily versus intermittent prednisolone regimens. Three hundred and sixty boys aged 3-15 years with confirmed DMD were … [Read more]

Spinal muscular atrophy (SMA) is among the most common genetic neurological diseases that cause infant mortality. Induced pluripotent stem cells (iPSCs) generated from skin fibroblasts from SMA patients and genetically corrected have been proposed to be useful for autologous cell therapy. In this study, the authors generated iPSCs from SMA patients (SMA-iPSCs) using nonviral, nonintegrating … [Read more]

Duchenne muscular dystrophy (DMD), a rare genetic disorder, leads to muscle death and the formation of scar tissue due to a mutant copy of the dystrophin gene. Average DMD life expectancy is 25. While no cure exists, recent stem cell work in a mouse model reveals a possible therapy. Researchers led by Suzanne Berry-Miller generated … [Read more]

Duchenne muscular dystrophy (DMD) is a severe disorder characterised by progressive muscle wasting, respiratory and cardiac impairments, and premature death. No treatment exists so far, and the identification of active substances to fight DMD is urgently needed. In this study, the authors have revealed that tamoxifen, a drug used to treat oestrogen-dependent breast cancer, caused … [Read more]

Dystrophin deficiency results in lethal Duchenne muscular dystrophy (DMD). Substituting missing dystrophin with abbreviated microdystrophin has dramatically alleviated disease in mouse DMD models. Unfortunately, translation of microdystrophin therapy has been unsuccessful in dystrophic dogs, the only large mammalian model. Approximately 70% of the dystrophin-coding sequence is removed in microdystrophin. Intriguingly, loss of ≥50% dystrophin frequently … [Read more]

Repligen Corporation, a life sciences company, entered into an exclusive worldwide licensing agreement with Pfizer Inc. to advance Repligen’s spinal muscular atrophy (SMA) program. The program was originally in-licensed from Families of SMA (FSMA). The SMA program includes RG3039, a small molecule drug candidate in clinical development for SMA, as well as backup compounds and … [Read more]