Myology research highlights
RSS feedAmerican guidelines for better assessment criteria in the evaluation of myasthenia gravis
The quality, and therefore the reliability, of outcome measures of the severity and/or progression of myasthenia gravis (MG) sometimes it comes up a little short, particularly in the field of clinical trials. This is the observation made by a number of experts at a meeting held in the United States with a view to making … [Read more]
Small molecules to improve the efficacy of tricyclo-DNA antisense oligonucleotides in mdx mice
A French team evaluated the efficacy of small molecules (UNC7938) in mdx mice to increase the availability of antisense oligonucleotides in the cell, by facilitating their escape from the cellular endosomes in which they are trapped.
The mdx mice were injected intravenously with a therapeutic treatment combining tricyclo-DNA antisense targeting mutated exon 23 and UNC7938. The results showed :
- a significant improvement in exon skipping levels, particularly in the early stages of treatment, with up to a 4. 4x increase in the heart 72 hours after injection;
- significantly higher levels of restored dystrophin, two weeks after the end of treatment, with 2.7 times more protein in the heart compared with mice treated with oligonucleotides alone;
- normalisation of cardiac function three months after the end of treatment, comparable to the group of non-diseased mice.
These results suggest that these compounds, which facilitate endosomal escape, can considerably improve the therapeutic potential of exon skipping approaches.
Restoration of brain dystrophin improves memory in mdx mice
In a study published in May 2022, two French teams succeeded in partially restoring dystrophin in certain brain regions of adult mdx mice, an animal model of Duchenne muscular dystrophy, thereby improving certain cognitive functions affected in the disease. The researchers administered optimised tricyclo-DNA antisense by intracerebroventricular injection to correct the reading frame of the … [Read more]
National recommendations for the management of dysimmune polyradiculoneuritis
In conjunction with the healthcare authorities, a group of practitioners from the FILNEMUS neuromuscular healthcare network has drawn up recommendations for the rational use of intravenous immunoglobulins (IVIg) in chronic inflammatory demyelinating polyneuropathy (CIDP): these recommendations arise in the context of the shortage of IVIg experienced by patients with CIDP, particularly at the time of … [Read more]
A European study clarifies the cardiac phenotype of children with muscular laminopathy
European neuropaediatricians and cardiologists have compiled the clinical and paraclinical data, in particular cardiac data, of a large cohort of 28 children with various phenotypes of laminopathy: 13 presented with an Emery-Dreifuss type phenotype, 11 with LMNA-related congenital muscular dystrophy (L-CMD), two with limb-girdle muscular dystrophy and two with moderate muscular deficiency, During follow-up, six … [Read more]
Towards 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]
