Myology research highlights
RSS feedTowards better recognition of AINM in children
On the occasion of the diagnosis of a case of autoimmune necrotizing myopathy (AINM) in one of their patients, two Japanese physicians provide an update on this infrequent and therefore poorly understood pathology in paediatrics: an exhaustive and critical analysis of the literature enabled them to identify 33 cases of AINM in patients under the … [Read more]
Cognitive profile and treatment in SMA type I
A study reveals for the first time the effects of three available treatments for SMA on the cognitive profile of infants with SMA type I: 18 infants participated in the study, 11 SMA type I treated post-symptomatically and 7 presymptomatically, 11 received Spinraza, three received Evrysdi and four received Zolgensma, In the presymptomatically treated infants, … [Read more]
Is dystrophin in plasma a new biomarker for DMD?
European researchers have demonstrated the presence of dystrophin in the plasma of patients with Duchenne muscular dystrophy (DMD): Using two antibodies specifically directed against dystrophin, fragments of this protein were found in the plasma of DMD patients, unlike in healthy subjects, DMD transmitters or patients with other neuromuscular diseases whose plasma did not contain any. … [Read more]
Base editing, under investigation in SMA
Two teams investigated the base editing technique to convert the SMN2 gene into the SMN1 gene: in cell models of SMA, the exchange of the different base of exon 7 of the SMN2 gene was successful (with minimal “off-target”), In SMA mouse models, SMN protein production is increased and motor function is improved, the life … [Read more]
NOTCH2NLC gene study in a large cohort of patients with CMT disease
Charcot-Marie-Tooth disease (CMT) is very heterogeneous both phenotypically and genetically. Japanese researchers studied 1783 CMT patients without a molecular signature and applied a sequencing technique called long-read: 26 patients belonging to 22 families had a pathological nucleotide expansion located in the NOTCH2NLC gene, this gene is known to give a distal oculo-pharyngeal myopathy, the authors … [Read more]
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]
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]
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]
