Blog Archives
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]
Description of the first Franco-Swiss cohort in SORD-related peripheral neuropathy
Defects in the SORD gene lead to hereditary distal motor neuropathy (dHMN type) or distal sensory-motor neuropathy (Charco-Marie-Tooth type). Discovered in 2020, there are still few cohorts of patients described in the literature. Experts from the FILNEMUS network, in association with their Swiss colleagues, published a cohort of 30 patients in March 2023: These patients … [Read more]
The Institute opens its doors on Saturday 3 June from 10 am to 5 pm
As part of Muscle Week, the Institute of Myology invites you to dive into the heart of the “Muscle”. On Saturday 3 June, between 10am and 5pm, we invite you to a special “Muscle” day at the heart of our Institute tomeetour scientific experts, doctors and researchers and discover muscle in all its states, understand … [Read more]
MYOLOGY 2024 will be held in Paris from 22-25 April 2024
Myology 2024, the 8th International Myology Congress, will be held in Paris from 22 to 25 April 2024. This 8th edition of the international congress dedicated to neuromuscular science is expected to bring together around 1,000 delegates from all over the world. With the Olympic Games just a few weeks away, we will have more … [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]
Introduction to research in myology at the Institute for SU medical students – Interview with Guillaume Bassez
The Institute welcomed its first class of medical students for an introduction to research in the field of myology in April 2023. This week of training, which is part of the medical curriculum at Sorbonne University, was organised by Guillaume Bassez, neurologist and head of a research group in the Repeat Expansions & Myotonic Dystrophy … [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]
The Institute of Myology is proud to be a partner of the Genother Biocluster
Genother is a biocluster dedicated to accelerating the development of gene therapy drugs. It is one of the five winners of the “Biocluster” call for expressions of interest under the France 2030 Plan, as announced today by the French President, Emmanuel Macron. This labeling will strengthen France’s leadership in the field of gene therapy, largely … [Read more]
Institute seminar – 24 May – Dr Carsten Bönnemann, MD (USA)
Childhood ALS and the Missing 6th Sense: Novel SPT and PIEZO2 associated Syndromes Wednesday 24 May – 11:00-12:00 Carsten G. Bönnemann, MD (NINDS, NIH, USA) Institute of Myology amphitheatre Babinski building 47/83 Boulevard Vincent Auriol 75013 Paris métro : Chevaleret Host : Valérie Allamand (CRM)
