Myology research highlights

Spinal muscular atrophy (SMA) is a neuromuscular disease caused by mutations in SMN1. The authors have previously demonstrated that CNS delivery of an AAV vector encoding SMN1 produced significant improvements in survival in a mouse model of SMA. Here, they performed a dose response study in SMA mice to determine the levels of SMN in … [Read more]

A study to track the natural history and functional capabilities of patients with myotubular myopathy (MTM), a form of centronuclear myopathy (CNM), is recruiting approximately 60 patients of any age (including newborns). There are three North American study sites, Boston, Bethesda, Md., Toronto, and a site in Paris.The investigators will follow study participants for three … [Read more]

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with few therapeutic options. Mild obesity is associated with greater survival in patients with the disease, and calorie-dense diets increased survival in a mouse model. The authors aimed to assess the safety and tolerability of two hypercaloric diets in patients with amyotrophic lateral sclerosis receiving enteral … [Read more]

Sporadic inclusion body myositis (sIBM), the most frequent myositis in elderly patients, is characterised by the presence muscle inflammation and degeneration. Here, the authors aimed at characterising immune responses and regulatory T cells, considered key players in the maintenance of peripheral immune tolerance, in sIBM. Serum and muscle tissue levels of 25 cytokines and phenotype … [Read more]

Using stem cells to replace degenerating muscle cells and restore lost skeletal muscle function is an attractive therapeutic strategy for treating neuromuscular diseases. Myogenic progenitors are a valuable cell type for cell-based therapy and also provide a platform for studying normal muscle development and disease mechanisms in vitro. Human pluripotent stem cells represent a valuable … [Read more]

In this study, the authors investigate the genetic and physiologic basis of the neuromuscular symptoms of hypotonia-cystinuria syndrome (HCS) and isolated PREPL deficiency, and their response to therapy. Molecular genetic, histochemical, immunoblot, and ultrastructural studies were performed, neuromuscular transmission in vitro in a patient with isolated PREPL deficiency was investigated, and the effect of pyridostigmine … [Read more]

This study evaluated the effects of preventive treatment with low-level laser therapy (LLLT) on the progression of dystrophy in mdx mice. Ten animals were randomly divided into 2 experimental groups treated with superpulsed LLLT (904 nm, 15 mW, 700 Hz, 1 J) or placebo-LLLT at one point overlying the tibialis anterior muscle (bilaterally) 5 times … [Read more]

 This 1st call for proposals launched by the  French Foundation for  rare  diseases  aims  to  directly support intermediary key  steps towards  clinical  development for patient.The objective is to support pilot scientific projects at the interface between the in vivo proofs of principle, usually in rodents, and the development of a clinical application in human patients.Submission deadline … [Read more]

Interim results of a phase 2 clinical trial to test multiple doses of the experimental drug ISIS-SMNRx in infants with spinal muscular atrophy (SMA) suggest that the drug is well-tolerated and may prolong ventilator-free survival. The drug is designed to increase the level of full-length, fully functional SMN. In the ongoing phase 2 trial, doses … [Read more]

Autosomal recessive centronuclear myopathy (CNM2), caused by mutations in bridging integrator 1 (BIN1), is a mildly progressive neuromuscular disorder characterized by abnormally centralized myonuclei and muscle weakness. BIN1 is important for membrane sensing and remodeling in vitro in different cell types. However, to fully understand the biological roles of BIN1 in vivo and to answer … [Read more]