Blog Archives
How to reconcile vaccination schedule and gene therapy in infants with SMA?
Gene therapy has become a treatment option for many infants with severe forms of spinal muscular atrophy (SMA) and tomorrow for those diagnosed at a presymptomatic stage through newborn screening. Polish researchers have been looking at the practical consequences of such a therapeutic approach on how to vaccinate these children. There are no international recommendations … [Read more]
First “Muscle Week”, 1-7 June 2023
The Institute of Myology and AFM-Telethon organised a press conference on 7 February to position muscle as a public health issue by announcing the project to create a Foundation of Myology and two dedicated events to raise awareness of this issue: Muscle Week and the Muscle Conferences in June 2023. Together, the Institute of Myology … [Read more]
FOP : une tendance à l’efficacité du palovarotène
Forty people with fibrodysplasia ossificans progressiva (FOP), aged 7 to 53 years, participated in the phase II trial of palovarotene, a selective gamma retinoic acid receptor agonist, versus placebo: 10 received placebo, 9 were treated with 5mg/d palovarotene for 15 days and then 2.5mg/d for one month, and 21 took 10mg/d palovarotene for 15 days and … [Read more]
HDAC6 inhibition improves the phenotype of mdx mice
Laurent Schaeffer’s team in Lyon, in collaboration with a Canadian team in Ottawa, has shown that inhibition of cytoplasmic histone deacetylase 6 (HDAC6) by administration of tubastatin A to mdx mice results in : an improvement in their strength, a decrease in muscle atrophy and fibrosis, an increase in utrophin and beta-dystroglycan levels, inhibition of … [Read more]
The induction of self-tolerance is back on the agenda in myasthenia gravis
According to preclinical work by Spanish researchers, carried out with the help of Rozen Le Panse’s team at the Institute of Myology : intraperitoneal injection of acetylcholine receptors (RACh) encapsulated in liposomes rich in phosphatidylserine decreases the anti-RACh antibody level and improves physical performance (Global clinical score or GCS) in an myasthenia gravis experimental mouse … [Read more]
Cell therapy in myasthenia gravis: one PNDS and three cases
Published in October 2022, the French National Diagnostic and Care Protocol (PNDS) for haematopoietic stem cell transplantation in autoimmune diseases includes myasthenia among the indications for this exceptional treatment, under four conditions: a diagnosis of proven myasthenia according to the diagnostic criteria of the PNDS Myasthenia, an age ≤ 65 years, severe myasthenia, class III … [Read more]
First enzyme replacement therapy started in utero shows promise in Pompe disease
A foetus with Pompe’s disease received ultrasound monitored alglucosidase alfa every 2 weeks from 24 to 34 weeks of pregnancy (6 injections). This baby girl continued to be treated after birth according to the standard of care (20mg/kg every fortnight, then 40mg/kg every fortnight from 9.6 months of age, then 40mg/kg every week from 11.3 … [Read more]
« Muscle is a real public health issue and should be recognised as such » – Interview with Laurence Tiennot-Herment
Interview with Laurence Tiennot-Herment, President of AFM-Telethon and Institute of Myology Association. Why is muscle a public health issue? As patients with neuromuscular diseases know all too well, muscles play a vital role in motor, respiratory and cardiac functions. But they are also affected in many other diseases such as cancer or diabetes. In other words, … [Read more]
Beware of cardiac complications in a-7 integrin deficiency
The first mutations in the gene coding for integrin a-7 were described in a very few patients with congenital muscular dystrophy (CMD). An international consortium of researchers has now identified new mutations in this gene, thus adding to the knowledge of the disease, and has also developed an animal model. These new mutations in integrin … [Read more]
Artificial intelligence for the interpretation of muscle biopsy images
Quantifying the number and size of muscle fibres remains a complex, repetitive and time-consuming task. It is hampered, in particular, by the low resolution of biopsy images. French engineers and biologists have developed a new artificial intelligence (AI) tool to try to remedy this. MyoSOTHES is a tool derived from the fusion of two algorithms … [Read more]
