Myotonic dystrophy
RSS feedSleep disordered breathing in slowly progressive myopathies: beyond alveolar hypoventilation
A French retrospective study of the records of 149 adults with an average age of 46.5 years and suffering from myotonic dystrophy (45) , myasthenia (20), Pompe disease (9), spinal muscular atrophy (8), facioscapulohumeral myopathy (8), Duchenne myopathy (5), Becker myopathy (1) or another neuromuscular disease (53) explored by respiratory polygraphy, nocturnal transcutaneous capnography and … [Read more]
Results of phase II trial testing erythromycin in DM1
Based on its efficacy in a mouse model of Steinert’s disease (DM1), a Japanese team evaluated erythromycin (MYD-0124) against placebo in 30 DM1 patients treated for six months. The treatment was well tolerated. Two out of eleven biomarkers (splicing abnormalities of the MBNL1 and CACNA1 genes) were improved in the treated group compared with the … [Read more]
DYNE-101 trial in Steinert disease: preliminary results announced
Dyne Therapeutics, the company developing the antisense oligonucleotide DYNE-101 for Steinert disease, has published initial results from its ongoing ACHIEVE trial. This is a Phase I/II trial starting with a dose escalation phase. The treatment appears to be well tolerated at all three doses tested. Improvements in myotonia and in the Myotonic Dystrophy Health Index … [Read more]
Compliance with non-invasive ventilation is not related to respiratory parameters in DM1
Dutch researchers studied compliance with non-invasive mechanical ventilation (NIV) prescribed as part of respiratory management for patients with Steinert’s disease (DM1). 101 patients who had been prescribed this equipment were monitored for at least one year, at the end of the year, 58 of them showed little or no compliance, these results being in line … [Read more]
Results 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]
