Blog Archives
ERN EURO-NMD webinar, 15 May: Dr. Teresinha Evangelista (France)
FSHD webinar series – Episode 2: “International Clinical Care Guidelines” Thursday 15 May 2025 – 16:00 – 17:00 Paris time Dr. Teresinha Evangelista (Institute of Myology & Pitié Salpêtrière Hospital – AP-HP, Paris, France) > + infos Organized by EURO-NMD in collaboration with ERN-RND.
ERN EURO-NMD webinar, 8 May: Prof. Emiliano Giardina (Italy)
FSHD webinar series – Episode 1: “Genetic Diagnosis” Thursday 8 May 2025 – 16:00 – 17:00 Paris time Prof. Emiliano Giardina (University of Rome Tor Vergata, Italy) > + infos Organized by EURO-NMD in collaboration with ERN-RND.
Long-term data on the evolution of patients with congenital myopathy
The Centre de référence des maladies neuromusculaires of the Institute of Myology conducted a single-centre observational study of 142 adult patients with congenital myopathy followed up between 1996 and 2019, for a median duration of 8 years. Congenital myopathies with cores linked to the RYR1 gene and centronuclear myopathies linked to the DNM2 gene were … [Read more]
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]
