Blog Archives
Positive results with gene therapy in a monkey model of DMD
A Chinese team has developed a rhesus monkey model of Duchenne muscular dystrophy, enabling it to evaluate a new gene therapy, with encouraging results. The DMDEx50 animal model has mutations in exon 50 of the DMD gene. A single-vector gene therapy called MyoAAV/Cas12iMax/sgRNA3Ex51 targeting exon 51 of the DMD gene was developed using Cas12iMax technology … [Read more]
Overexpressing utrophin in DMD: a new therapeutic approach in the spotlight
Chinese researchers have revived a therapeutic technique designed to over-express utrophin, an endogenous protein very similar to dystrophin: they used a genome-editing approach in several models (cellular and animal) of Duchenne muscular dystrophy (DMD) combined with a Myo-AAV muscle-specific viral vector (to obtain MyoAAV-UA). after administration, robust and long-lasting overexpression of utrophin was obtained in … [Read more]
Data from a cohort of 219 patients with distal myopathy provide further details on the characteristics of these diseases
Spanish doctors have published the demographic, clinical, genetic and physiological data from the largest cohort of patients with distal myopathy. With 219 patients included, the prevalence of distal myopathy in the Spanish population (in the Valencia region) is estimated at 3.9 per 100,000. The patients often presented with distal or proximodistal motor weakness that appeared … [Read more]
A significant advance in DMD cell therapy
British researchers have succeeded in significantly improving the grafting of myogenic progenitor cells (MPC) into the muscle fibre of mouse models of Duchenne muscular dystrophy: they used a special gel (hydrogel) to stabilise the donor cells so that they would take better hold in the muscle of the recipient mice, Stem cells from patients suffering … [Read more]
Towards a European register of autoimmune myasthenia gravis cases
At a time when innovative therapies are being developed for refractory forms of autoimmune myasthenia gravis, the idea of setting up a European register is gaining ground: to this end, a group of experts comprising 11 neurologists, 4 neuropaediatricians and a physiotherapist was brought together to define the most relevant items for the future register, … [Read more]
Valproic acid improves exon skipping efficiency in DMD mouse models
The major challenge of exon skipping therapy in Duchenne muscular dystrophy is to effectively deliver the antisense oligonucleotides to the targeted tissues, in this case the muscles. After obtaining encouraging results over four weeks, a French team assessed the benefits of combining valproic acid with antisense oligonucleotides designed to skip exon 23 of the DMD … [Read more]
Repeated intrathecal injections of nusinersen and pain syndrome: can we anticipate its onset?
South Korean researchers sought to identify predictive factors for the occurrence of a pain syndrome after long-term transforaminal injection of nusinernen in patients with SMA: 34 non-marching SMA patients participated in the study, data from the corresponding 290 intrathecal injections were analysed in a multivariate analysis, nearly half of them had experienced a pain syndrome at … [Read more]
An English study on mortality in SMA in the era of innovative therapies
The UK consortium dedicated to the care of young patients with SMA has carried out a retrospective mortality study using data from the national SMA REACH UK register: over a 5-year period (2019-2023), 25 deaths were recorded among the 533 children listed in the said register, one of them had a very severe form (SMA … [Read more]
CMT X1: positive results in mice with a new gene therapy
A Cypriot team has developed a new gene therapy called AAVrh10-hMPZ.GJB1 aimed at restoring connexin 32 expression in X-linked Charcot-Marie-Tooth disease (CMT X1) and tested it via intrathecal administration in a mouse model of the disease (Gjb1-null). The mice were divided into four groups: one receiving the control vector AAVrh10-hMPZ.EGFP and the other three the … [Read more]
Myobank-AFM, a key player in the field of myology research
Myobank-AFM, the Institute of Myology’s biological resource centre, is offering patients a new donation card. This service, set up in 1996 to help researchers and advance knowledge of neuromuscular diseases, is increasingly in demand from those involved in both basic and clinical research. Myobank-AFM‘s mission is to collect, prepare, store and provide fluid and tissue … [Read more]
