Duchenne muscular dystrophy
RSS feedDMD: Commercial go-ahead for givinostat (Duvyzat™) in the USA
Givinostat, a drug developed by Italfarmaco for Duchenne and Becker muscular dystrophies, is a histone deacetylase (HDAC) inhibitor. On 21 March 2024, it was granted marketing authorisation in the United States by the FDA on the basis of the results of the EPIDYS phase III double-blind, placebo-controlled trial, which took place in France. The EPIDYS … [Read more]
Failure of the ryanodine receptor causes myocardial senescence and fibrosis in DMD
Researchers in the south of France have studied the determinants of the degeneration and fibrosis observed in cardiomyopathy linked to Duchenne muscular dystrophy (DMD) in animals and humans: human pluripotent stem cells from DMD patients were first transformed into cardiomyocytes, myocardial tissue from DMD model dogs (GRMD) was also analysed, dysfunction of the type 2 … [Read more]
Proteomics to help elucidate pathophysiological interactions and associated multisystem dysfunctions
This perspective article, in which researchers from the Institute of Myology took part, addresses the question of how proteomics, a central systems biology technique deeply rooted in the multi-omics field of modern biological research, can help us to better understand the molecular pathogenesis of complex diseases. Duchenne muscular dystrophy is an example of a monogenetic … [Read more]
Sleep 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]
Microdystrophin-based gene therapies do not prevent utrophin expression in muscle fibers
American researchers have investigated whether the supply of microdystrophin via AAV viruses could modify the physiological overexpression of utrophin observed in Duchenne muscular dystrophy: the double-knockout mouse for utrophin and dystrophin (dKO) served as an experimental model, and received a transgene encoding utrophin, in addition, two distinct types of micro-dystrophin (mDysH3 and mDys5) were injected … [Read more]
Guidelines for the administration of microdystrophin gene therapy
American and European clinicians involved in innovative therapies for Duchenne muscular dystrophy (DMD) have published guidelines for the use of delandistrogene moxeparvovec, a gene therapy product: these recommendations are the result of experience acquired during the clinical development of this innovative molecule, which includes an AAV vector of the rh74 type and was developed by … [Read more]
Titin fragments as biomarkers for DMD
In order to identify a reliable biomarker for Duchenne muscular dystrophy (DMD), researchers associated with the Solid Biosciences laboratory have analysed the biological data of patients who took part in an IGNITE gene therapy trial with a microdystrophin : urine samples were taken at D0, M6 and M12 from participants with DMD in this trial, … [Read more]
New failure of anti-myostatin therapy in DMD
The investigators who conducted three clinical trials to test the efficacy and safety of taldefgrobep alpha (a myostatin-inhibiting molecule) in Duchenne muscular dystrophy (DMD) publish disappointing results in a single article: this was a phase I trial in healthy volunteers initiated back in 2014, followed by two phase Ib/II and II/III trials, all involving 180 … [Read more]
ATL1102, an antisense oligonucleotide being tested against inflammation in DMD
CD49d production by CD49d+ T lymphocytes in diseased muscle contributes to increased inflammation, and its abundance is associated with greater severity of Duchenne muscular dystrophy. The antisense oligonucleotide ATL1102 blocks CD49d production, as demonstrated in mdx mice. An open-label Phase II trial in 9 non-ambulant DMD patients aged between 10 and 18 years, treated for … [Read more]
Guidelines for good practice in respiratory care for DMD in the UK
To address the disparities that exist between the various specialist centres in the UK, a neuromuscular expert group made up of pulmonologists, neurologists, physiotherapists and patient representatives has drawn up good practice recommendations for the routine and emergency respiratory management of people with Duchenne muscular dystrophy (DMD). The recommendations have been endorsed by the British … [Read more]
