Blog Archives
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]
Identification of a slow and gradual decline in muscle strength in GNE myopathy and tailored tools to evaluate it
Characterised by distal muscle weakness, GNE myopathy (also known as Nonaka myopathy, hereditary inclusion body myositis, distal myopathy with rimmed vacuoles or quadriceps-sparing myopathy) is caused by abnormalities in the GNE gene, which codes an enzyme involved in sialic acid biosynthesis. To date, only two natural history studies of this disease have been published, one … [Read more]
A new functional scale adapted to LGMD, in particular to dysferlinopathies
Functional scales are very useful in neuromuscular diseases (NMD), for monitoring NMD patients as well as in therapeutic trials where they can be used as outcome measures. They can be generic, such as the measurement of motor function (MFM), or specific to certain diseases or groups of NMD, such as Duchenne muscular dystrophy or spinal … [Read more]
M&M’s – Muscle Monday Seminar – 3 May – Walter Herzog (Canada)
The forgotten filament: titin’s contribution to active force production in skeletal muscle Monday 3 May from 4 to 5 pm. Dr Walter Herzog (Professor, Faculty of Kinesiology and Department of Mechanical and Manufacturing Engineering, University of Calgary, Adjunct Professor, Department of Surgery and Faculty of Veterinary Medicine, University of Calgary, Director, Human Performance Lab, Tier I … [Read more]
DMD: gene therapy clinical trial starting in France
A first patient with Duchenne muscular dystrophy has received a gene therapy treatment at I-Motion, the paediatric clinical platform for neuromuscular diseases, in the context of a clinical trial conducted by Généthon. A first decisive step! A young boy with Duchenne muscular dystrophy was treated with a gene therapy at I-Motion, in Paris. He is … [Read more]
