Duchenne muscular dystrophy
RSS feedVamorolone (Agamree®) now authorised in Europe for DMD from the age of 4
Vamorolone (drinkable suspension, 40 mg/ml) is a “dissociative” synthetic steroid developed by Santhera and ReveraGen for Duchenne muscular dystrophy (DMD), as an anti-inflammatory treatment alternative to conventional corticosteroids. The European Union has just approved the marketing authorisation for vamorolone in DMD patients from the age of 4, based on the results of four trials in … [Read more]
Duchenne muscular dystrophy: the possibility of necroptosis inhibition
In the dystrophin-deficient muscle of mouse, rat and dog models of Duchenne muscular dystrophy, there is activation of necroptosis, RIPK1 and RIPK3, key signaling molecules of programmed necrosis, as well as MLKL, a downstream effector of RIPK1 and 3. However, two studies have shown that inhibition of necroptosis can lead to impaired myogenesis and muscle … [Read more]
A CRISPR-Cas9 system induces multiple exon skipping in DMD
Genome editing is an emerging approach to the targeted treatment of Duchenne muscular dystrophy (DMD). Japanese researchers have conducted experiments using the CRISPR-Cas9 tool in induced pluripotent stem cells (iPSc): unlike other genome-editing tools that target one exon of the DMD gene, the system used can skip many exons at once, up to a total … [Read more]
Myopathology of DMD reveals intrinsic senescence of muscle stem cells
A Franco-Italian team has studied the regeneration processes, fibro-adipogenic precursors and muscle stem cells in 24 muscle biopsies from patients with Duchenne muscular dystrophy (DMD): by establishing the myopathological trajectory of DMD, she demonstrated the existence of an increase in fibro-adipogenic cells parallel to a decrease in muscle regenerative capacity; this is correlated with impaired … [Read more]
Corticosteroids improve the efficacy of preventive treatment of left ventricular failure in DMD
A retrospective study of the occurrence of left ventricular damage in 455 boys with Duchenne muscular dystrophy, born between 1982 and 2009 and followed for an average of 10 years with a mean age at last check-up of 14.8 years shows that : 40.7% had left ventricular failure (ejection fraction less than 55% or shortening … [Read more]
Growth hormone to offset corticosteroid-induced growth retardation in DMD
Four boys suffering from Duchenne muscular dystrophy treated with corticosteroids (deflazacort or prednisone) had growth retardation with height varying between -3.24 and -1.85 standard deviations, growth velocity ranging from 0 to 3.25 cm/year and bone age retardation of two to four years. Treatment with growth hormone at a rate of 0.24mg/kg/week accelerated growth from 3 … [Read more]
Identification of the causes of death of the only patient treated in the first CRISPR-Cas9 gene therapy trial for DMD
American researchers have analysed the causes of death of a 27-year-old Duchenne muscular dystrophy (DMD) patient who took part in the first trial using the CRISPR-Cas9 system for therapeutic purposes in this disease: the patient had received a single intravenous injection of an AAV9-mediated genome-editing product at a dose of 1×1014 vector-genome per kilo of … [Read more]
Testosterone in DMD improves the situation but does not normalise it
The Newcastle team looked at the long-term follow-up of a cohort of 15 boys with Duchenne muscular dystrophy on corticosteroids who were treated with increasing doses of testosterone for two years: the average age of participants at the end of the study was 18.7 years and the average duration of corticosteroid treatment was 11.2 years; … [Read more]
Biology of T cells in neuromuscular diseases: the case of DMD and ALS
In neuromuscular diseases of different pathogenic origins, there is growing evidence of a close interaction between the immune system, the nerve and the muscle. The aim of this review, involving researchers from the Institute of Myology and its partner FIOCRUZ in Brazil, is to analyse this phenomenon more closely in Duchenne muscular dystrophy (DMD) and … [Read more]
Mixed efficacy results for SRP-9001 (Elevidys), a gene therapy approved in the USA for DMD
In a press release dated 30 October 2023, Sarepta Therapeutics announced the initial efficacy results of the Embark trial, a phase III trial of Elevydis (SRP-9001), a microdystrophin gene therapy drug approved in the United States in June 2023. The trial involved 124 participants aged between 4 and 7 years (59 aged between 4 and … [Read more]
