Blog Archives
Dystrophin restoration after AAV U7-mediated Dmd exon skipping is modulated by muscle exercise in a mouse model of severe DMD
A team of French researchers, involving researchers from the Institute, showed in a mouse model of severe DMD that voluntary exercise has an impact on a Dmd exon skipping approach and on muscle physiology. D2-mdx mice were administered an AAV-U7 snRNA intra-muscularly to correct the Dmd reading frame and then allowed to run in a … [Read more]
Symposium 2022 – The Gene Therapy Revolution Underway: The Latest Advances – Novembre 16th, 2022, Paris
The GTRU 2022, an international scientific symposium dedicated to the advances and challenges of gene therapy, will be held on Wednesday 16 November 2022 from 9 am to 6.30 pm at the Imagine Institute at Necker Hospital (Paris). This event called ” The Gene Therapy Revolution Underway : The Latest Advances ” is organised by … [Read more]
Developing allele-specific versatile siRNAs that can silence all dominant mutations in dynamin 2
Dominant mutations in the DNM2 gene encoding Dynamin 2 (DNM2) cause centronuclear dominant myopathy (CNM), rare cases of Charcot-Marie-Tooth disease and hereditary spastic paraplegia. Deleterious overexpression of DNM2 has also been found in several other diseases. In February 2018*, researchers from the Institute of Myology led by Marc Bitoun** had published the proof of concept … [Read more]
The European Reference Network (ERN) EURO-NMD is looking for a Project Manager (m/f)
ERN EURO-NMD European Reference Networks (ERNs) are networks involving centers of expertise and health care providers across Europe. They aim to tackle complex or rare diseases and conditions that require highly specialized treatment, as well as a concentration of knowledge and resources. Established in 2017 and co-funded by the European Commission, EURO-NMD is a European … [Read more]
Dutch team confirms the importance of cardiorespiratory monitoring in patients with SEPN1- and LAMA2-related myopathies
A team from Radboud University in the Netherlands compiled the cardiac involvement of 192 cases of SEPN1-related myopathies (mean age 19 years) and 131 cases of LAMA2-related muscular dystrophies (mean age 14 years) published in the literature. In both study populations, cardiac disorders may start in young patients: average age 17 years in LAMA2-related muscular … [Read more]
FOP: the day-to-day burden of the disease
An international survey (NCT04665323), sponsored by the pharmaceutical company Ipsen, which develops palovarotene, and translated into 11 languages was available online between January and April 2021. It was completed by 219 people with FOP and 244 family members from 15 countries including France (20 patients and 21 family members). Almost half of the patients were … [Read more]
A new mutation mechanism in SMA
A few very rare cases of SMA are accompanied by complex genotypes. In this context, a team of French researchers has identified a novel mutation in a 50 year old patient with type III SMA. It took 30 years to solve this complex case. The novel mutation corresponded to the insertion of a retrotransposon of … [Read more]
How to treat hypercholesterolemia in the context of Immune-mediated necrotizing myopathy?
Immune-mediated necrotizing myopathy (IMNM) is very often linked to the use, whether prolonged or not, of statins. These cholesterol-lowering molecules are prescribed to nearly one in four Americans. Chilean clinicians have studied the possible alternatives to this treatment to combat the underlying dyslipidemia: the researchers report the case of a 65-year-old patient treated for four … [Read more]
Atypical forms of inclusion myositis are not so exceptional
Inclusion myositis (or IBM for Inclusion body myositis) belongs to the group of inflammatory myopathies of autoimmune origin. US researchers from the Mayo Clinic compiled data from 357 patients diagnosed with IBM between 2015 and 2022 : 14% of patients had clinically atypical forms of the disease, These included isolated swallowing disorders (50%), isolated and … [Read more]
The value of myostatin measurement in the follow-up of inflammatory myopathies
Measuring the activity of an inflammatory pathology such as inclusion myositis or autoimmune necrotizing myopathy is not easy. Researchers at the Institute of Myology in Paris have investigated the hypothesis that the determination of myostatin, a muscle growth inhibitory factor, may be useful in this context: ELISA assays for myostatin and complementary measurement of the … [Read more]
