Blog Archives
M&M’s – Muscle Monday Seminar – 8 March – Abigail Mackey (Denmark)
Human skeletal muscle from the cellular perspective in vivo and in vitro Monday 8 March 2021 – 12:00-13:00 Abigail Mackey (Department of Biomedical Sciences, University of Copenhagen, Denmark) Hosted by Vincent Mouly On prior registration for people outside the Institute of Myology: medecine-umrs974-myologie@sorbonne-universite.fr > Further details on the seminar of Abigail Mackey
DMD: start at I-Motion of a gene therapy trial using a microdystrophin designed by Genethon in collaboration with Sarepta Therapeutics
The gene therapy used in this trial combines an AAV-type viral vector and a shortened version of the dystrophin gene, the microdystrophin, designed by researchers and experts from Genethon – a laboratory funded by AFM-Telethon – in collaboration with the team of Prof. George Dickson (University of London) and the team of Caroline Le Guiner … [Read more]
New publications confirm the benefits of eculizumab in refractory myasthenia gravis with AChR antibodies
Myasthenia gravis is caused by antibodies directed against the neuromuscular junction. Approximately 10% of patients present a generalised form, resistant to normal treatments. In this situation, different therapeutic approaches can be considered, in particular complement component 5 inhibition (C5 inhibitor) with, for example zilucoplan, ravulizumab or eculizumab. The latter obtained European marketing authorisation in 2017 … [Read more]
A large Italian cohort confirms the complexity in interpreting borderline FSHD genotypes
Facioscapulohumeral muscular dystrophy (FSHD) affects 4.5 per 100,000 people in Europe. It typically manifests as muscle weakness with a specific pattern, since it affects the muscles of the face and those around the shoulder blades. The most common form, FSHD type 1, is the result of contraction of the repeated D4Z4 units in the 4qA … [Read more]
Study of long, non-coding RNA in a cohort of Becker muscular dystrophy patients: Applicability to the design of the exons 45-55 skipping therapeutic strategy for DMD
Elena Gargaun, MD, PhD in cellular and molecular biology, has been working in the “Gene therapy for DMD & pathophysiology of the skeletal muscle” team at the Institute of Myology for her thesis: “Genotype and phenotype characterisation of Becker muscular dystrophy patients with deletion of exons 45-55”, under the supervision of France Piétri-Rouxel. Her work, … [Read more]
The muscle, an essential partner… in vaccination!
The COVID-19 vaccination campaign is being discussed everywhere. It raises multiple questions, but do we know why vaccines, and in particular messenger RNA vaccines, have to be injected intramuscularly (into the muscle)? Here, we help you understand how the muscle optimises vaccination efficacy. Whether it’s a vaccine for COVID-19, the flu or hepatitis B, the … [Read more]
Inclusion myositis and sirolimus: the final results of the Rapami trial pave the way for a phase III
Sporadic inclusion myositis combines inflammatory processes and muscle degeneration. It is the most common myositis after the age of 50, but also the only one that is unresponsive to the usual treatments for these autoimmune diseases (corticosteroids, immunosuppressants). Between 2015 and 2017, Prof. Olivier Benveniste’s team led, with the financial support of AFM-Téléthon, a single-center, … [Read more]
New information from clinical trials on Pompe disease
The 10th French Pompe disease Day took place on 28 January 2021 by videoconferencing. It brought together over 80 experts, and provided the opportunity not only to review the consequences of the health crisis on patient care, but also to provide an overview of the various trials currently underway or in preparation in France. Although … [Read more]
M&M’s – Muscle Monday Seminar – 1st March – Werner Stenzel (Germany)
Myositis associated with connective tissue disease: The classic ones – Antisynthetase Syndrome – The less well studies ones – Scleromyositis Monday 1 March 2021 – 12:00-13:00 Werner Stenzel (Department of Neuropathology, Charité – Universitätsmedizin, Berlin, Germany) Hosted by Olivier Benveniste On prior registration for people outside the Institute of Myology: medecine-umrs974-myologie@sorbonne-universite.fr > Further details on … [Read more]
More or less promising new therapeutic approaches in FSH
Facioscapulohumeral myopathy (FSH) results in progressive damage to the muscles of the face, the fixators of the scapula, the muscles of the trunk and the levator muscles of the feet. There are two types, FSH1 (95% of cases) and FSH2 (5% of cases). In both types, the DUX4 gene is abnormally expressed. It encodes the … [Read more]
