Blog Archives
The relevance of genome editing coupled with cell therapy in the treatment of calpainopathies
German researchers have developed a cell therapy coupled with a CRISP-Cas9-based genome editing technique in a transgenic mouse with the c.550delA founder mutation in the homozygous state in the CAPN3 gene encoding calpain-3 (calpain-related LGMD-R1): the edited cells were able to re-express the calpain-3 protein transcripts in the normal state, demonstrating that genome editing was … [Read more]
A reliable biomarker to predict response to gene therapy in SMA
French clinicians from the Filnemus network report the results of a prospective study aimed at measuring the predictive value of muscle action potential amplitude (CMAP) coupled with a motor score in infants with spinal muscular atrophy (SMA) destined to receive gene replacement therapy. 13 symptomatic infants followed at the Necker Enfants Malades University Hospital (Paris) … [Read more]
Analysis of the largest cohort of patients with anoctaminopathy
An international multicentre study reports the results of the analysis of the characteristics of 234 patients with ANO5-related myopathy (limb-girdle muscular dystrophy type R12 or LGMD R12, distal muscular dystrophy type 3 or MMD3, ANO5-related pseudometabolic myopathy and asymptomatic hyperCKemia). The data collected included the following: all subgroups, except for pseudometabolic myopathy, show a male … [Read more]
Certain types of dermatomyositis are thought to protect against cancer risk
Dermatomyositis (DM) is generally a disease with an increased risk of developing neoplasia, hence the need for regular monitoring. Researchers from two US centres studied two cohorts of DM and compared them to other immune system diseases and healthy subjects: anti-CCAR1 autoantibody was exclusively detected in the serum of DM patients positive for anti-TIF1-gamma antibody … [Read more]
An ENMC workshop on dystrophinopathies in women
In May 2022, the European Neuromuscular Center (ENMC) brought together about 20 experts and patient representatives from all over the world to review the pathophysiology, prevalence and management of women with partial or complete dystrophin deficiency. Their conclusions and recommendations include: the need to abandon the term “transmitters” or “carriers” of Duchenne muscular dystrophy in … [Read more]
Ultrasound useful to assess respiratory effort in MFM patients: a case study
Myofibrillar myopathies (MFMs) are a small but fairly heterogeneous group of neuromuscular diseases characterised, at the histopathological level, by the accumulation of protein products which cause a disorganisation of the internal architecture of the muscle fibre network. Their clinical manifestations are varied, with distal muscle involvement and potentially lethal cardiac abnormalities being the most common. … [Read more]
Towards a methodological flexibility of clinical trials in DMD?
An international consortium of researchers and clinicians involved in therapeutic trials in Duchenne muscular dystrophy (DMD) is calling for a methodological revision based on the following findings: Current clinical trials in DMD have so far been based on the constitution of patient groups that are as homogeneous as possible on the genotypic level. This is … [Read more]
Two major breakthroughs in autoimmune necrotizing myositis
Autoimmune necrotizing myositis (AINM) is a recently described entity related to the deleterious effect of autoantibodies directed against an enzyme, HMG CoA reductase, most often in the context of prolonged statin exposure. Israeli researchers report the observation, at this unique stage, of a family of Bedouin origin in whom : a homozygous mutation in the … [Read more]
A review of the literature profiles scleromyositis as a disease in itself rather than a simple overlap between myositis and scleroderma
A French-Canadian team analysed some sixty publications in order to better define the diagnostic criteria for scleromyositis, an emerging entity. Their review highlights in particular : muscle weakness that is often symmetrical and proximal, more important in the upper than in the lower limbs, axial, more rarely distal ; an increase in CKemia; numerous possible … [Read more]
Reducing diagnostic error in mitochondrial diseases with the COMMI project
The French network of 11 mitochondrial disease diagnostic laboratories MITODIAG has announced the launch of the COMMI project, which aims to : create a cohort of 400 patients with mitochondrial diseases caused by a mutation of a nuclear gene, diagnosed (high-throughput sequencing) by one of the laboratories of the network; analyse their genetic and clinical … [Read more]
