Blog Archives
2019 Science Fair at the institute on October 11, 12 and 13
As part of the Science Fair (Fête de la science), the Institute of Myology is organizing several events. On October 11, the Institute invited donors to visit laboratories. The laboratory of Physiology and neuromuscular evaluation directed by Jean-Yves Hogrel will offer them the opportunity to see closely various tools of evaluation of the force or … [Read more]
Odile Boespflug-Tanguy, the Head of I-Motion: strengthening the links between preclinical research, clinical research and care
Odile Boespflug-Tanguy, a paediatric neurologist at the Robert Debré Hospital, has just become head of the I-Motion Institute, in addition to her position as president of the AFM-Téléthon Scientific Advisory Board. She is a paediatrician and researcher by training, and has also headed, during her career, the Auvergne Reference Centre for Neuromuscular Diseases (Centre de … [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]
Novel mutation in MARS in a patient with CMT, axonal, type 2U with congenital onset
Charcot-Marie-Tooth disease is a phenotypically and genetically heterogeneous group of disorders affecting both motor and sensory neurons. Exome sequencing has driven discovery of genes responsible for Charcot-Marie-Tooth disease with more than 70 genes now associated with this neuromuscular disease. The MARS gene was recently reported as the cause of Charcot-Marie-Tooth 2U, a slowly progressive axonal … [Read more]
