Blog Archives

The French Foundation for rare diseases (Fondation maladies rares) is pleased to launch its call for research projects dedicated to applications of next generation sequencing to unraveling genetic and molecular bases of rare diseases. The goal of the open call for proposals is to support hypotheses driven research projects aimed at exploring genetic and molecular … [Read more]

Cardiomyopathy caused by lamin A/C gene (LMNA) mutations (hereafter referred as LMNA cardiomyopathy) is an anatomic and pathologic condition associated with muscular and electrical dysfunction of the heart, often leading to heart failure-related disability. There is currently no specific therapy available for patients that target the molecular pathophysiology of LMNA cardiomyopathy. An international study, which … [Read more]

  Facioscapulohumeral muscular dystrophy (FSHD) is among the most prevalent of the adult-onset muscular dystrophies. FSHD causes a loss of muscle mass and function, resulting in severe debilitation and reduction in quality of life. Currently only the symptoms of FSHD can be treated and with minimal benefit. The available options are not curative and none … [Read more]

TRIM32-related myopathies represent a phenotypic spectrum of a rare autosomal recessive muscle disorder. The disease is described as a mild and progressive myopathy without characteristic clinical features. Originally classified as limb-girdle muscular dystrophy (LGMD) 2H (OMIM #254110), the disorder was first identified in the Hutterite population and the homozygous TRIM32 founder mutation, p.Asp487Asn, was identified … [Read more]

  Mutations in the GAA gene may cause a late onset Pompe disease presenting with proximal weakness without the characteristic muscle pathology, and therefore a test for GAA activity is the first tier analysis in all undiagnosed patients with hyperCKemia and/or limb-girdle muscular weakness. By using MotorPlex, a targeted gene panel for next generation sequencing, … [Read more]

  Spinal muscular atrophy (SMA) is caused by deletions/mutations in SMN1. Most heterozygous SMA carriers have only one SMN1 copy in one of the alleles (1/0 carriers). However, a few carriers lack SMN1 in one of their chromosomes, but present two gene copies in the other. These “2/0 carriers” are undistinguishable from non-carrier individuals (1/1) … [Read more]

The results of the FORCE trial evaluating the effects of rituximab in refractory myasthenia gravis have been published.   The FORCE trial The FORCE trial is a Phase II pilot trial coordinated by Prof. O. Benveniste (Inflammatory Myopathies & Targeted Innovative Therapies, Myology Research Center) and supported by the AFM-Téléthon. The objective was to evaluate … [Read more]

  Duchenne muscular dystrophy (DMD) is caused by mutations in DMD, resulting in loss of dystrophin, which is essential to muscle health. DMD “exon skipping” uses anti-sense oligo-nucleotides (AONs) to force specific exon exclusion during mRNA processing to restore reading frame and rescue of partially functional dystrophin protein. Although exon-skipping drugs in humans show promise, … [Read more]

Myotonic dystrophy type 1, the most common adult-onset form of muscular dystrophy, is a multisystem disease with progressively worsening symptoms. Fatigue constitutes the most common non-muscular symptom in patients with this disease,1 and can exact a heavy toll on their quality of life. This multicentre, single-blind, randomised trial aimed to determine whether cognitive behavioural therapy … [Read more]