Myology research highlights
RSS feedAn unprecedented paediatric case of myopathy linked to the HMGCR gene
HMGCR is an enzyme involved in the metabolism of cholesterol and other metabolites. Until now, it was best known in connection with autoimmune necrotising myopathy (AINM) with anti-HMGCR autoantibodies, following statin use: American and Japanese clinicians report an unprecedented case of hereditary myopathy linked to the gene encoding this enzyme but occurring at a very … [Read more]
A comprehensive study of a series of patients with SLONM
Italian clinicians analysed the clinical and biological data from a large series of cases of sporadic late-onset nemaline myopathy (SLONM): they added their own cases (5) to those in the literature, giving a total of 144 patients, 47% of whom had been initially diagnosed with SLONM with monoclonal gammopathy, which was absent in the other … [Read more]
A first step towards the possibility of administering gene therapy in subjects already immune to AAV
American researchers in Indiana have studied ways to overcome the obstacle posed by the presence of neutralising antibodies in patients who need to undergo viral vector-mediated gene therapy: to this end, an optimised Duchenne muscular dystrophy (DMD) transgene was inserted into an AAV9 (AAV9-UFµDys1), and the injection was performed on mdx mice models of DMD, … [Read more]
Is methylprednisolone effective in treating cognitive impairment in DMD?
Chinese researchers studied the potentially positive effects of intraperitoneal corticosteroid injection in a mouse model of Duchenne muscular dystrophy (DMD): the working hypothesis was that methylprednisolone (MP) could improve the cognitive and behavioural disorders observed naturally in these diseased mice, the study included neuropsychological tests, brain tissue analysis and proteomic profiling, MP appears to have … [Read more]
Cardiac complications observed in rats treated with microdystrophin
French researchers, in collaboration with the Généthon laboratory, report the results of a study conducted on rats with Duchenne muscular dystrophy (DMD) treated with microdystrophin gene therapy: this work comes in the context of toxicity observed in some DMD patients who received microdystrophin using an AAV viral vector; a rat optimised to best mimic DMD … [Read more]
A new protocol for treatment with high-dose nusinersen arrives in Europe
While nusinersen is currently administered at a dose of 12 mg intrathecally, a new treatment device with higher doses (50 mg and 28 mg) has just been authorised by the European Commission. This follows the results of the DEVOTE trial, which showed a significant improvement in motor function in participants with proximal spinal muscular atrophy … [Read more]
The French model for multidisciplinary team meetings in SMA
With the arrival of three innovative treatments (Spinraza, Zolgensma and Evrysdi), multidisciplinary team meetings (MTM) were set up in France in 2017 and then rolled out nationwide in 2019 to define the best treatment strategy for children who have just been diagnosed with SMA or who do not yet have treatment. The main features of … [Read more]
DMD: dystrophin deficiency also affects vascular cells
While vascular damage is suspected in Duchenne muscular dystrophy (DMD), recent studies show that dystrophin deficiency alters the plasticity of vascular smooth muscle cells. These results were obtained from mdx mice and vascular smooth muscle cells derived from induced pluripotent stem cells from patients with the disease. Dystrophin is highly expressed in normal smooth muscle … [Read more]
A French study sheds light on the progression of CMT 4C
Conducted over 20 years (2003–2023), this study involved 103 patients with Charcot-Marie-Tooth disease linked to the SH3TC2 gene (CMT 4C) who were monitored in 27 French university hospitals. The patients mainly presented with muscle weakness and loss of sensation in the distal limbs, foot deformities, scoliosis sometimes accompanied by breathing difficulties, hearing loss, etc. After … [Read more]
GC101 gene therapy shows encouraging results in type II and III SMA in nine patients
While Zolgensma gene therapy is only indicated for children weighing less than 21 kg with type I SMN1-related proximal spinal muscular atrophy (SMA) or who carry a biallelic mutation of the SMN1 gene and a maximum of three copies of the SMN2 gene, a Chinese team has tested a new gene therapy, GC101. Like Zolgensma, … [Read more]
