Blog Archives
Depression and anxiety are common in CMT
An analysis of data from the Italian Charcot-Marie-Tooth (CMT) disease registry shows that: 14% suffer from psychological distress, 10% from depression (compared to 4% and 2% in the general population). 19% take antidepressants or anxiolytics, 12% of them every day. 70% of patients take analgesics or anti-inflammatory drugs, 17% of them at least twice a … [Read more]
Molecular improvement and signs of clinical efficacy in the AOC 1001 trial in DM1
Avidity Biosciences announced in a press release the first results of the MARINA phase 1-2 trial of AOC 1001 in 44 people with Steinert’s disease (DM1) in the US. The product caused only moderate side effects in most participants. However, one person who received the highest dose of the drug candidate experienced serious health problems, … [Read more]
Cytoskeletal involvement in dilated cardiomyopathy caused by LMNA gene mutations – Interview with Caroline Le Dour
Caroline Le Dour is a post-doctoral fellow in the Signaling Pathways & Striated Muscles team led by Antoine Muchir, at the Institute’s Myology Centre for Research. She is first author of a paper published in Nature Communications which focuses on the interaction of actin and microtubule cytoskeletons in cardiomyopathy caused by LMNA gene mutations. What … [Read more]
Miniaturised “organ-on-chip” for muscle dystrophy modelling
Quantifying functional contraction of skeletal muscle is essential to assess the outcome of therapies in neuromuscular diseases. Three-dimensional muscle “organ-on-chip” models imitate muscle function but usually require a large amount of biological material, which can rarely be obtained from biopsies of patients with neuromuscular diseases. The miniaturised myotube technology used here requires much less tissue … [Read more]
Intravenous immunoglobulin (IgIV) therapy does not facilitate corticosteroid dose reduction in corticosteroid-dependent Myasthenia gravis
Intravenous immunoglobulins (IgIV) have shown a cortisone-sparing effect in several autoimmune diseases. An international team conducted a clinical trial to evaluate this effect in myasthenia gravis. The multi-centre, randomised, double-blind, placebo-controlled study included 60 cortisone-dependent patients aged 18 to 85 years. Patients in the IgIV group received an initial dose of 2g/kg, followed by an … [Read more]
A new genomic sequencing technique for the diagnosis of FSH
The molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD) is challenging due to the existence of complex alterations in the 4qter chromosomal region and the genetic heterogeneity of the disease (FSHD1, FSHD2). Hypomethylation, which also plays an important role in the pathophysiology of this condition, is difficult to measure routinely. A new technology, based on the … [Read more]
Crossed views on the evaluation and expected benefits of the use of exoskeletons
Crossed views on the evaluation and expected benefits of the use of exoskeletons in two clinical trials conducted at the Institute of Myology. In this fourth edition of “Regards croisés”, two Myology experts, Damien Bachasson, PhD, Scientific Research Project Manager and Dr Guillaume Bassez, Neurologist, present a key research project conducted at the Institute of … [Read more]
Fibrodysplasia ossificans progressiva (FOP): proof of concept of gene therapy in mice
An American team has successfully tested the transfer of the ACVR1 gene, the transfer of an allele-specific silencing microRNA ACVR1R206H, and the combination of both. Gene therapy in human iPS cells of FOP abolishes activin A signalling and aberrant osteogenic and chondrogenic differentiation. Local treatment of traumatic heterotopic ossifications in adult mouse models of FOP … [Read more]
Higher incidence of gastrointestinal cancer in FSHD?
A small-scale study involving 31 adults with FSH and 30 without showed, with regard to extra-muscular manifestations: the incidence of gastrointestinal cancer (gastric or colorectal) would be higher in FSH, from the age of 40 years, and not dependent on the length of the D4Z4 repeats, an absence of significant difference for other, non-gastrointestinal cancers … [Read more]
Depression and anxiety are common and under-diagnosed in autoimmune myasthenia gravis
The results of a study conducted in Germany among 1,399 patients with autoimmune myasthenia and 1,042 of their caregivers show : the high frequency of depression (30.8%) and anxiety (35.5%) in the Hospital Anxiety and Depression Scale (HADS) questionnaire and their under-diagnosis; treatment was more often by medication (57.8%) than by psychotherapy (35.5%); a negative … [Read more]
