Myology research highlights

The European gene therapy trial STR1VE EU is an open-label, phase III study to evaluate the efficacy and safety of utilisation of a single, intravenous injection of AVXS-101 (an AAV9 carrying the SMN1 gene), in 30 infants with SMA associated proximal spinal muscular atrophy (SMA) type 1, under 6 months of age. The study was … [Read more]

The longer survival of patients with Duchenne muscular dystrophy due to advances in clinical care has increased the incidence of Duchenne muscular dystrophy-associated cardiomyopathy, a nearly consistent feature in the third decade of life. A 26-year-old patient with Duchenne muscular dystrophy experienced severe acute heart failure triggered by pneumonia. Levosimendan was effective in improving heart … [Read more]

Spinal muscular atrophy (SMA) is a progressive motor neuron disease caused by loss or mutation of the survival motor neuron 1 (SMN1) gene and retention of SMN2. The authors performed targeted capture and sequencing of the SMN2, CFTR, and PLS3 genes in 217 SMA patients. They identified a 6.3 kilobase deletion that occurred in both … [Read more]

Loss of dystrophin expression in Duchenne muscular dystrophy (DMD) causes progressive degeneration of skeletal muscle, which is exacerbated by reduced self-renewing asymmetric divisions of muscle satellite cells. This, in turn, affects the production of myogenic precursors and impairs regeneration and suggests that increasing such divisions may be beneficial. Here, through a small-molecule screen, a team … [Read more]

Fatigability has emerged as an important dimension of physical impairment in patients with Spinal Muscular Atrophy (SMA). At present reliable and valid outcome measures for both mildly and severely affected patients are lacking. Therefore the primary aim of this study is the development of clinical outcome measures for fatigability in patients with SMA across the … [Read more]

A growing body of evidence supports exercise as a very important part of the treatment for adult patients with idiopathic inflammatory myopathies (IIM). This review mainly focuses on exercise studies published during the last 2 years in adult myositis. During the last couple of years, new publications present further evidence for intensive endurance exercise as an … [Read more]

Limb-girdle muscular dystrophies (LGMDs), one of the most heterogeneous neuromuscular disorders (NMDs), involves predominantly proximal-muscle weakness with >30 genes associated with different subtypes. The clinical-genetic overlap among subtypes and with other NMDs complicate disease-subtype identification lengthening diagnostic process, increases overall costs hindering treatment/clinical-trial recruitment. Currently seven LGMD clinical trials are active but still no gene-therapy-related … [Read more]

A modest production of dystrophin from 3 muscular biopsies in three participates in a phase I/II trial, IGNITE-DMD, after 3 months of treatment with SGT-001. SGT-001, developed by the Solid Biosciences organization, a gene therapy medicine candidate that uses the microdystrophin gene. A phase I/II clinical trial (IGNITE DMD), currently ongoing in the United States, … [Read more]

Currently, the only approved standard Duchenne muscular dystrophy (DMD) treatment in Japan is oral steroids, which have various disadvantages. Previous work has suggested that hematopoietic-type prostaglandin D synthase (HPGDS), involved in production of the inflammatory mediator prostaglandin D2 (PGD2), might have a role in DMD pathology. Authors therefore investigated the safety, pharmacokinetics (PK), and pharmacodynamics … [Read more]

SMA Europe is pleased to announce its 10th international Call for SMA Research Projects. This new Call for SMA Projects will be open to any research project aimed at finding a therapy for Spinal Muscular Atrophy (SMA) or at elucidating the basic pathophysiological processes of the disease. The online application portal will be accessible from … [Read more]