Myology research highlights
RSS feedReproductive pattern in women with IIM – a population-based study
The objective of this study was to examine the reproductive pattern of women with idiopathic inflammatory myopathy (IIM) compared to the general population. Population-based, nationwide registers were used to identify offspring of women with IIM and comparators. Women with IIM in general had similar reproductive pattern as the comparators whereas those diagnosed between 26 and … [Read more]
CSF transplantation of a specific iPSC-derived neural stem cell subpopulation ameliorates the disease phenotype in a mouse model of SMARD1
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a genetic motor neuron disease affecting infants. This condition is caused by mutations in the IGHMBP2 gene and currently has no cure. Stem cell transplantation is a potential therapeutic strategy for motor neuron diseases such as SMARD1, exerting beneficial effects both by replacing cells and … [Read more]
NCALD antisense oligonucleotide therapy in addition to nusinersen further ameliorates spinal muscular atrophy in mice
Spinal muscular atrophy (SMA) is a neuromuscular disease causing the most frequent genetic childhood lethality. Recently, nusinersen, an antisense oligonucleotide (ASO) that corrects SMN2 splicing and thereby increases full-length SMN protein, has been approved by the FDA and EMA for SMA therapy. However, the administration of nusinersen in severe and/or post-symptomatic SMA-affected individuals is insufficient … [Read more]
Acceleron abandons the development of ACE-083 in the treatment of FSHD
Facioscapulohumeral muscular dystrophy (FSHD) is characterised by a selective muscular deficit (muscles of the face, shoulders and arms). This characteristic made it a good candidate in assessing the efficacy of ACE-083, a drug molecule developed by Acceleron, which, when administered by intramuscular injection, exercises a local myostatin-inhibiting action. In 2016, a phase II clinical trial … [Read more]
Clinicogenetic lessons from 370 patients with autosomal recessive LGMD
Limb-girdle muscular dystrophies (LGMD) are a group of genetically heterogeneous disorders characterized by predominantly proximal muscle weakness. The Brazilian clinicians aimed to characterize epidemiological, clinical and molecular data of patients with autosomal recessive LGMD2/LGMD-R in Brazil. A multicenter historical cohort study was performed at 13 centers, in which index cases and their affected relatives’ data … [Read more]
Radiographic patterns of muscle involvement in the idiopathic inflammatory myopathies
This study assesses the burden, distribution, and evolution of muscle inflammation and damage on MRI among subtypes of idiopathic inflammatory myopathy (IIM). Musculoskeletal MRIs performed in 66 patients with IIM and 10 patients with non-IIM between 2009 and 2016 were retrospectively graded for muscle edema, fatty replacement (FR), and atrophy. Immune-mediated necrotizing myopathy (IMNM) patients … [Read more]
Vamorolone trial in DMD shows dose-related improvement of muscle function
This study evaluated vamorolone, a first-in-class steroidal anti-inflammatory drug, in Duchenne muscular dystrophy (DMD). An open-label, multiple-ascending-dose study of vamorolone was conducted in 48 boys with DMD (age 4-<7 years, steroid-naive). Dose levels were 0.25, 0.75, 2.0, and 6.0 mg/kg/d in an oral suspension formulation (12 boys per dose level; one-third to 10 times the … [Read more]
Safety and efficacy of intravenous bimagrumab in inclusion body myositis (RESILIENT): a randomised, double-blind, placebo-controlled phase 2b trial
Inclusion body myositis is an idiopathic inflammatory myopathy and the most common myopathy affecting people older than 50 years. To date, there are no effective drug treatments. The authors aimed to assess the safety, efficacy, and tolerability of bimagrumab-a fully human monoclonal antibody-in individuals with inclusion body myositis. The clinicians did a multicentre, double-blind, placebo-controlled … [Read more]
AVXS-101 for SMA1: comparative study with a prospective natural history cohort
Spinal muscular atrophy type 1 (SMA1) is the leading genetic cause of infant mortality for which therapies, including AVXS-101 (onasemnogene abeparvovec, Zolgensma®) gene replacement therapy, are emerging. This study evaluated the effectiveness of AVXS-101 in infants with spinal muscular atrophy type 1 (SMA1) compared with a prospective natural history cohort and a cohort of healthy … [Read more]
Effect of genetic background on the cardiac phenotype in a mouse model of EDMD
A-type lamins gene (LMNA) mutations cause an autosomal dominant inherited form of Emery-Dreifuss muscular dystrophy (EDMD). EDMD is characterized by slowly progressive muscle weakness and wasting and dilated cardiomyopathy, often leading to heart failure-related disability. EDMD is highly penetrant with poor prognosis and there is currently no specific therapy available. Clinical variability ranges from early … [Read more]
