Blog Archives
French-Iranian symposium on Therapeutic Updates in Neuromuscular Disorders – May 21st – 12:30
The French-Iranian symposium, supported by FILNEMUS (the French Rare Health Care for Neuromuscular Diseases Network), will take place by videoconference on Friday, May 21st, 2021, at 12h30 (Paris time). It will focus on therapeutic updates in Neuromuscular Disorders. Speakers : Shahriar Nafissi, MD (Professor of Neurology, Tehran University of Medical Sciences, Iran) Topic: Myasthenia Gravis … [Read more]
Using gene therapy to treat CMT 1A through RNA interference
Charcot-Marie-Tooth disease type 1A (CMT1A) is an inherited sensory-motor neuropathy linked to the duplication of the PMP22 gene. Excessive production of PMP22 by Schwann cells disrupts the myelin sheath and interferes with peripheral nerve function. RNA interference is one of the therapeutic avenues being developed in CMT 1A to decrease the expression of PMP22 in … [Read more]
Development of arimoclomol stops in inclusion body myositis
With a prevalence of 1 in 200,000 in Europe, inclusion body myositis is the most common idiopathic myositis after the age of 50. It is characterized by an often asymmetric muscle involvement with amyotrophy and begins in the quadriceps and / or flexors of the fingers. Muscle biopsy shows two phenomena: inflammation and degeneration with … [Read more]
STR1VE results confirm efficacy of Zolgensma in type I SMA
The STR1VE clinical trial was set up following the positive results of the first trial concerning Zolgensma (onasemnogene abeparvovec) which evaluated its efficacy in 15 participants with type I SMA aged less than 6 months. In this new american, phase III, open-label clinical trial, 22 participants with type I SMA presenting one or two copies … [Read more]
A low level of anti-AAV9 antibodies makes most very young patients with SMA eligible for Zolgensma
Pre-existing immunity against adeno-associated viruses (AAVs), which are naturally very widespread, is one of the obstacles to gene therapy using such a vector. Zolgensma (onasemnogene abeparvovec), a gene therapy authorized in SMA, is in particular composed of an AAV9. When setting up clinical trials with Zolgensma, young participants whose anti-AAV9 antibody level exceeded 1:50 were … [Read more]
M&M’s – Muscle Monday Seminar – 17 May – Lori L. Wallrath (USA)
Nuclear membrane myopathies: Defective boundaries Monday 17 May from 12 am to 1 pm. Lori L. Wallrath, PhD (Professor of Biochemistry, University of Iowa Healthcare, USA) Hosted by Antoine Muchir On prior registration for people outside the Institute of Myology: medecine-umrs974-myologie@sorbonne-universite.fr >More information on the presentation and the speaker
The Institute is recruiting a Research Associate and an Engineer (M/F)
A research associate and an engineer positions are available in the BOND group, at the Myology Center for Research, Sorbonne University, INSERM U974, Institute of Myology (Pitié-Salpêtrière hospital, Paris). Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disorder characterized by the progressive loss of motor neurons and voluntary muscle function and with no effective cure to … [Read more]
Life expectancy is increasing for DMD thanks to the angiotensin-converting enzyme (ACE) inhibitors
In Duchenne muscular dystrophy (DMD), heart involvement leads to heart failure. Angiotensin-converting enzyme (ACE) inhibitors are routinely prescribed at around 10 years of age for prevention. A French retrospective study initiated by Prof. Karim Wahbi, Professor of Cardiology at the Cochin Hospital and the Institute of Myology (Paris), relating to a cohort of boys with … [Read more]
The phenotype distinction between Myoshi distal myopathy and LGMD R2 is no longer justifiable in dysferlinopathy
Dysferlinopathy encompasses several clinical entities, having in common a deficit in dysferlin, a protein involved in muscle fibre membrane repair mechanisms. Initially reduced simply to Myoshi distal myopathy, the phenotype spectrum was rapidly extended to pure proximal forms such as limb-girdle muscular dystrophy (LGMD) R2, and especially to mixed proximal/distal forms. Dysferlinopathy is transmitted in … [Read more]
M&M’s – Muscle Monday Seminar – 10 May – Guillaume Millet (France)
Measuring fatigability in clinical populations: is it relevant? Monday 10 May from 12 am to 1 pm Guillaume Millet, PhD (Professor at Jean Monnet University (Saint-Etienne, France), Leader of the ActiFS academic chair, Senior member of the Institut Universitaire de France 2019, Director of the inter-university Laboratory of Human Movement Biology in 2020) Hosted by Jean-Yves … [Read more]
