Myotonic dystrophy
RSS feedResults of the phase II-III trial of AMO-02 in congenital DM1
The results of the international REACH-CDM trial involving 56 children aged between 6 and 16 with the congenital form of myotonic dystrophy type 1 were announced in a press release on 6 September 2023. The primary endpoint, the Clinician-Completed Congenital DM1 Rating Scale, was not met. A significant reduction in CPK enzymes was measured in … [Read more]
Senolytic molecules improve the behaviour of muscle stem cells in DM1
In DM1, muscle stem cells adopt the characteristics of senescent cells, including the secretion of senescence-associated secretory phenotype (SASP). A Canadian team showed that : serum levels of certain SASPs (including interleukin 6) are correlated with muscle weakness and functional limitations. administration of a senolytic product inhibiting BCL-XL leads to the death of senescent myoblasts … [Read more]
A simple algorithm for predicting respiratory impairment in myotonic dystrophies
German researchers have developed a method to better detect ventilatory disorders in patients with DM1 or DM2 myotonic dystrophy. The method is based on a checklist known as “Respicheck”, which takes into account several clinical parameters coupled with functional respiratory tests: 172 people took part in a complementary study to validate Respicheck, 74 had DM1, … [Read more]
Japanese study identifies cardiac determinants of sudden death in DM1
Sudden death is a not uncommon event in the evolution of patients suffering from myotonic dystrophy type 1 (DM1). Japanese researchers have analysed the clinical, genetic and pathological data from three of these patients who died prematurely: the three patients, one male and two females, were aged 18, 25 and 35 respectively; only the 25-year-old … [Read more]
DM1: RNA toxicity alters astrocyte morphology, adhesion and migration – Interview with Mario Gomes-Pereira
Mario Gomes-Pereira and his team* have just published a paper in Nature Communications** on the toxicity of mutant RNA that alters the morphology, adhesion and migration of astrocytes in mice and humans with myotonic dystrophy type 1 (DM1). Interview with Mario Gomes-Pereira. What is the background to this work? DM1 is a neuromuscular disease … [Read more]
My thesis in 180 seconds: Louison Lallemant, 2022 Public prize winner – Interview
Louison Lallemant is a doctoral student in the group of Mario Gomes-Pereira and Geneviève Gourdon within the REDs team led by Denis Furling and Geneviève Gourdon, at the Institute’s Myology Centre for Research. She has just won the Public Prize awarded by Internet users and the public attending the Sorbonne University Final of the “My … [Read more]
Charles Frison-Roche wins Oral Research Communication Prize awarded by SFM – Interview
Charles Frison-Roche has received the Oral Research Communication Prize, awarded by the French Myology Society (SFM). He is a PhD student in the REDs team headed by Denis Furling and Geneviève Gourdon, at the Myology Research Centre and the Institute of Myology. Under the supervision of Frédérique Rau, he is working on the pathophysiology of … [Read more]
