Blog Archives
A large multicenter study of pediatric DM1 for evidence-based management
The aim of this study was to genotypically and phenotypically characterize a large pediatric myotonic dystrophy type 1 (DM1) cohort to provide a solid frame of data for future evidence-based health management. Among the 2,697 patients with genetically confirmed DM1 included in the French DM-Scope registry, children were enrolled between January 2010 and February 2016 … [Read more]
SMArtCARE – A platform to collect real-life outcome data of patients with SMA
Survival and quality of life for patients affected by spinal muscular atrophy (SMA) are thought to have improved over the last decade due to changes in care. In addition, targeted treatments for SMA have been developed based on a better understanding of the molecular pathology. In 2016 and 2017, nusinersen was the first drug to … [Read more]
Echographic assessment of diaphragmatic function in DMD from childhood to adulthood
Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic muscle disorder. Respiratory muscle function is classically affected in this disease. Ultrasound recently emerged as a non-invasive tool to assess diaphragm function. However, there are only a few studies using diaphragm ultrasound (US) in DMD. In this study, French clinicians from the Centre for Reference for … [Read more]
Fractures and linear growth in a nationwide cohort of boys with DMD with and without glucocorticoid treatment: results from the UK NorthStar database
Based on studies with relatively small sample size, fragility fractures are commonly reported in glucocorticoid (GC)-treated boys with Duchenne muscular dystrophy (DMD). This study aimed to determine the fracture burden and growth impairment in a large contemporary cohort of boys with DMD in the United Kingdom and in relation to GC regimen. A retrospective review … [Read more]
The Centre for Research in Myology is recruiting a Bioinformatician
Created in January 2014 on the site of La Pitié-Salpétrière University Hospital, the Centre for Research in Myology directed by Prof. B. Fontaine is a center of excellence for multidisciplinary research on the muscle and its pathologies. It gathers over one hundred persons includingresearchers, doctors, engineers, technicians and students from INSERM, Sorbonne Université, CNRS and … [Read more]
Amifampridine phosphate (Firdapse) is effective in a confirmatory phase 3 clinical trial in LEMS
To assess tolerability and efficacy of amifampridine phosphate versus placebo for symptomatic treatment of Lambert-Eaton Myasthenic Syndrome (LEMS), the authors designed a phase 3 randomized, double-blind, placebo-controlled withdrawal trial in 26 adults with LEMS compared efficacy of amifampridine phosphate versus placebo over a 4-day period. The primary endpoints were quantitative myasthenia gravis score (QMG) and … [Read more]
Long-term evaluation of AAV-CRISPR genome editing for DMD
Duchenne muscular dystrophy (DMD) is a monogenic disorder and a candidate for therapeutic genome editing. There have been several recent reports of genome editing in preclinical models of DMD, however, the long-term persistence and safety of these genome editing approaches have not been addressed. Here, researchers show that genome editing and dystrophin protein restoration is … [Read more]
Is early detection of late-onset Pompe disease a pneumologist’s affair? A lesson from an Italian screening study
Late-onset Pompe disease (LOPD) is a recessive disease caused by α-glucosidase (GAA) deficiency, leading to progressive muscle weakness and/or respiratory failure in children and adults. Respiratory derangement can be the first indication of LOPD, but the diagnosis may be difficult for pneumologists. An Italian team hypothesizes that assessing the GAA activity in suspected patients by … [Read more]
Rituximab in the treatment of refractory anti-HMGCR immune-mediated necrotizing myopathy
A pathogenic role of anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (anti-HMGCR) antibodies has been proposed. The objective of the study was to assess efficacy of rituximab (RTX) in anti-HMGCR immune-mediated necrotizing myopathy. All patients who had been treated with RTX were retrospectively reviewed to assess features and outcome. Three of 9 patients demonstrated stable or improved muscle strength … [Read more]
FSHD1 and FSHD2 form a disease continuum
The aim of this national multicenter cohort study was to compare the clinical features of patients showing a classical phenotype of facioscapulohumeral muscular dystrophy (FSHD) with genetic and epigenetic characteristics of the FSHD1 and FSHD2 loci D4Z4 and SMCHD1. A European team including clinicians from the Institute of Myology measured motor strength, motor function, and … [Read more]
