Blog Archives
High risk of vertebral fractures and deflazacort use in DMD patients
Corticosteroids are widely used in the management of patients with Duchenne muscular dystrophy (DMD). They improve quality of life in these patients by prolonging ambulation and preserving cardiorespiratory status. However, corticosteroid treatment is associated with a decrease in bone mineral density (BMD) and an increased risk of vertebral fractures (VF). The purpose of this … [Read more]
Expanding the phenotypic spectrum for COL12A1 disorders
Mutations in the COL12A1 gene have been described in a milder Bethlem-like myopathy in 6 patients from 3 families (dominant missense), and in a severe congenital form with failure to attain ambulation in 2 patients in a single pedigree (recessive loss-of-function). The authors describe an 8-year old girl of Polish origin who presented with … [Read more]
From 40% of dystrophin expression, muscle condition is improved
Team 5 from the Institute of Myology Centre of Research, “RNA-repair based therapeutic strategies and skeletal muscle pathophysiology” directed by France Piétri-Rouxel, demonstrated that a minimum level of 40% of dystrophin is necessary both to recover strength and to improve muscle general condition. How did you obtain these results? Our team has a long-standing interest … [Read more]
Development of a HRQL questionnaire: Phase 1
This qualitative study describes the development of a health-related quality of life (HRQL) questionnaire for patients with slowly-progressive neuromuscular disease (NMD) such as myopathies and muscular dystrophies. To ensure adequate representativeness in terms of severity, three types of focus groups were formed: (1) Patients able to walk (WP). (2) Patients using a wheelchair (WCP). … [Read more]
DM1: correlation between white and gray matter abnormalities and clinical and genetic features
Myotonic dystrophy type 1 (DM1) represents a multisystemic disorder in which diffuse brain white and gray matter alterations related to clinical and genetic features have been described. Here, the authors aimed to evaluate in the brain of 24 adult patients with genetically-confirmed DM1 (i) white and gray matter differences, including cortical-subcortical gray matter volume … [Read more]
Methotrexate has no steroid-sparing effect in patients with generalized myasthenia gravis
This 12-month multicentre, randomised, double-blind, placebo-controlled trial aimed to determine the steroid-sparing effect of methotrexate (MTX) in patients with symptomatic generalized myasthenia gravis (MG). MTX 20 mg was administered orally every week vs placebo in 50 acetylcholine receptor antibody-positive patients with MG between April 2009 and August 2014. The primary outcome measure was the … [Read more]
Circulating miRNAs: potential biomarkers in muscular dystrophies
The development of medical approaches requires preclinical and clinical trials for assessment of therapeutic efficacy. Such evaluation entails the use of biomarkers, which provide information on the response to the therapeutic intervention. One newly-proposed class of biomarkers is the microRNA (miRNA) molecules. In muscular dystrophies (MD), the dysregulation of miRNAs was initially observed in muscle … [Read more]
DMD: efficacy of gene augmentation therapy through a pre-treatment with antisense oligonucleotides
Team 5 from the Institute of Myology Centre of Research, “RNA-repair based therapeutic strategies and skeletal muscle pathophysiology” directed by France Piétri-Rousel, showed in a study led and conducted by Stéphanie Lorain and Cécile Peccate that a pre-treatment made of antisense oligonucleotides improves significantly the benefit of gene therapy for Duchenne Muscular Dystrophy. This “preparation” … [Read more]
Use of hip kinetics to identify functional muscle strength in young boys with Duchenne muscular dystrophy
The success of randomized clinical trials for novel therapeutics for DMD depends on outcome measurements that are sensitive to change. As the development of motor skills may lead to functional improvements in young boys with DMD, their inclusion may potentially confound clinical trials. Three-dimensional gait analysis is an under-utilized approach that can quantify joint … [Read more]
Feasibility of ActiMyo® in recording movements of non-ambulant DMD patients
Measurement of muscle strength and activity of upper limbs of non-ambulant patients with neuromuscular diseases is a major challenge. ActiMyo® is an innovative device that uses magneto-inertial sensors to record angular velocities and linear accelerations that can be used over long periods of time in the home environment. The device was designed to insure long-term … [Read more]
