Duchenne muscular dystrophy
RSS feedResearch into biomarkers to differentiate Becker and Duchenne muscular dystrophies
Swedish and Dutch researchers used mass spectrometry to try to identify proteomic profiles that would distinguish between the two most common types of dystrophinopathy, namely Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD): 34 patients with BMD and 19 with DMD were included in the study, which lasted three years and consisted of collecting … [Read more]
A cardiac micro-pump useful in cases of decompensated cardiomyopathy in DMD
American researchers report the successful implantation of a temporary Impella 5.5 endocavitary micro–pump developedby Abiomed: the patient was a 14–year–old boy with Duchenne muscular dystrophy, he had been transferred for treatment of cardiogenic shock in the context of decompensation of his cardiomyopathy. the implantable device was inserted through the right axillary artery into the left … [Read more]
Gene therapy and DMD: a possible link with cardiac inflammation?
Following the serious side effects observed during trials of micro–dystrophin gene therapy using an AAV viral vector in Duchenne muscular dystrophy (DMD), researchers at the Institute of Myology undertook to investigate the mechanismsinvolved in greater depth: a transgenic mouse with a double knockout for dystrophin and utrophin was used as an experimental model, treated with … [Read more]
DMD: Canakinumab reduces certain blood markers but not IL1b
Canakinumab (Ilaris®) is a monoclonal antibody that neutralises interleukin 1 beta (IL1β), an inflammatory marker that is highly expressed in Duchenne muscular dystrophy. It is an immunosuppressant that is already on the market. A US phase I/II trial evaluated the efficacy of 2 mg/kg of canakinumab in three boys with DMD (two aged 4 and … [Read more]
DMD: launch of the pivotal phase of Généthon’s gene therapy trial
The results of the gene therapy trial (GNT0004) conducted by Généthon for Duchenne muscular dystrophy were presented on 17 May at the 2025 conference of the American Society of Gene & Cell Therapy (ASGCT). They demonstrate stabilisation of motor function and a significant and sustained reduction in CPK levels in patients treated at the effective … [Read more]
An effective genomic editing approach in DMD
In Duchenne muscular dystrophy (DMD), researchers used a CRISPR-Cas9 technique to correct the deletion of exon 52 of the DMD gene by targeting exon 53 and restoring the open reading frame (ORF) of dystrophin. Injection of the genome editing material: induced a 68% restoration of dystrophin in cardiomyocytes derived from induced pluripotent stem cells (iPSCs) … [Read more]
Inhibition of glutamate dehydrogenase as a new therapeutic approach in DMD
European and Chinese researchers have focused on the glutamate pathway as a possible therapeutic target in Duchenne muscular dystrophy (DMD): this molecule plays an important role in the presynaptic endings of neuromuscular junctions, pharmacological inhibition of the enzyme GLUD-1 (glutamate dehydrogenase 1) by compound R162 was analysed in mdx mice, a model of DMD, the … [Read more]
Mapping dystrophin expression in the central nervous system
In the context of the cognitive difficulties frequently observed in Duchenne muscular dystrophy (DMD), British researchers have reported work on the presence of dystrophin in the brain, whether adult or simply developing: transcripts of the DMD gene were analysed on samples from a bank of brain tissue at different stages of development, in particular, the … [Read more]
Proteomics as an alternative to muscle biopsy
European researchers, including two from the Institute of Myology, report on progress in serum biomarkers for Duchenne muscular dystrophy (DMD): classical markers, such as creatine phosphokinase, myoglobin and lactate dehydrogenase, are still valid but have serious limitations, biomarkers derived from mass spectrometry studies now provide important and very often reliable information, particularly in cases of … [Read more]
DMD: Translarna® loses its conditional authorisation in Europe and is no longer available in France
On 28 March 2025, the European Commission announced the withdrawal of the European marketing authorisation for Translarna® in Duchenne muscular dystrophy. This concerned DMD patients aged 2 and over who were still walking and had a nonsense genetic anomaly in the DMD gene. In France, the decision was taken on 17 June 2025 by the … [Read more]
