Duchenne muscular dystrophy
RSS feedGuidelines 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]
DMD: altered iron metabolism in cardiomyocytes corrected by deferoxamine or pioglitazone
A Polish team has investigated the mechanism involved in Duchenne cardiomyopathy by studying the transcriptome and proteome of exon 50-deleted cardiomyocytes derived from human iPS cells. She found : a decrease in mitoNEET protein levels ; an increase in labile iron in the cytoplasm and mitochondria; a decrease in ferroportin ; an increase in ferritin … [Read more]
Biphosphonates and DMD: a review of the literature confirms the 2018 management recommendations
A review of the literature on the use of biphosphonates found in 19 publications concerning 1,010 children and adults with Duchenne muscular dystrophy (DMD) treated with corticosteroids: a high level of evidence that biphosphonates improve bone density in the areolar bone of the vertebral bodies of these patients; greater improvements in patients treated with intravenous … [Read more]
After re-examination, the CHMP’s opinion on Translarna’s marketing authorisation for DMD remains unfavourable
On 15 September 2023, the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) decided against renewing the marketing authorisation for Translarna (ataluren) in Duchenne muscular dystrophy (DMD). Developed by the laboratory PTC Therapeutics, the drug has until now benefited from a conditional marketing authorisation granted by the EMA for … [Read more]
A review of serious digestive complications in adults with DMD
Based on four emblematic individual cases of young adults with Duchenne muscular dystrophy (DMD), a British team studied and reviewed life-threatening digestive complications: DMD patients were between 24 and 28 years old, three out of four had never received long-term corticosteroid therapy, all had minor digestive problems such as constipation and/or dysphagia, depending on the … [Read more]
Tamoxifen is well tolerated but does not show significant clinical efficacy
The European phase III multicentre randomised placebo-controlled TAMDMD trial (NCT03354039) evaluated, from May 2018 to October 2020, 20 mg of tamoxifen daily for 48 weeks in 78 boys with Duchenne muscular dystrophy (DMD), aged 6.5 to 12 years, on corticosteroids. Changes in the D1 dimension of the measure of motor function (MFM) were not significantly … [Read more]
