Duchenne muscular dystrophy
RSS feedIncreasing utrophin expression in DMD using CRISPR-Cas9
One therapeutic approach for Duchenne muscular dystrophy (DMD) involves increasing the expression of utrophin to compensate for the absence of dystrophin, with which it shares a high degree of homology. A team at Généthon used the CRISPR-Cas9 system to generate insertions or deletions at the binding site of the Let-7c microRNA in order to lift … [Read more]
Recommendations for the management of neuropsychiatric disorders associated with DMD
The management of neurodevelopmental and psychiatric disorders represents a major unmet need among patients with Duchenne muscular dystrophy (DMD). As part of the European BIND (Brain Involvement iN Dystrophinopathies) project, five specialist European clinicians reported on their experience in managing these disorders. Depending on the centre, between less than 5% and 20% of patients receive … [Read more]
Sexual dysfunction remains understudied in neuromuscular disorders
A team from the Institute of Myology conducted a literature review to assess the current state of knowledge regarding sexual dysfunction in neuromuscular diseases. The analysis covered 27 studies conducted between 1983 and 2024, involving 2,428 patients. Sexual dysfunction is common and varied in neuromuscular diseases, with multifactorial mechanisms (endocrine, neuromuscular, psychological or related to … [Read more]
Gaining a better understanding of the cause of two deaths linked to dilandistrogene moxeparvovec in order to better prevent them
US experts in gene therapy for Duchenne muscular dystrophy (DMD) have investigated the causes of two deaths that occurred in 2025 and were attributed to the administration of a single dose of dilandistrogene moxeparvovec (Elevidys®). They propose the following preventive measures: the two patients concerned were aged 15 and 16 respectively and had no risk … [Read more]
Rapamycin: an adjunctive treatment for post-gene therapy hepatotoxicity with AAV?
American specialists in gene therapy using adeno-associated viruses (AAV) have investigated the serious cases of liver toxicity that occurred during gene therapy with microdystrophin (delandistrogene moxeparvovec, Elevidys®) in patients with Duchenne muscular dystrophy: four patients treated with this product who developed serious liver damage on average one month after injection were given higher doses of … [Read more]
A new prognostic factor in muscular dystrophies with cardiac involvement
Clinicians in the Paris region, some of whom practice at the Institute, report on a study of a new ratio of echocardiographic parameters in patients with various forms of muscular dystrophy (primarily Becker or Duchenne muscular dystrophy and sarcoglycanopathies): the assessment of coupling between the pulmonary artery and the right ventricle provides a good indication … [Read more]
Increasing efficacy of Elevidys in DMD
L’essai de phase III EMBARK avait présenté des résultats non significatifs contre placebo pour le critère principal à un an, ce qui avait valu un avis défavorable de l’Agence européenne du médicament (EMA) à la commercialisation de l’Elevidys dans la dystrophie musculaire de Duchenne (DMD). The phase III EMBARK trial showed non-significant results compared to placebo for the primary endpoint … [Read more]
BIND: a tool for better identifying and assessing central nervous system involvement in DMD
An international consortium of researchers has developed and validated a new tool for studying disorders related to central nervous system damage (learning disorders, etc.) in patients with Duchenne muscular dystrophy (DMD): BIND (Brain Involvement iN Dystrophinopathies) takes the form of an 18-item scale completed by the patient themselves and/or their carers. developed by a group … [Read more]
Limited efficacy of using AAV-U7 to deliver antisense oligonucleotides to the brains of DMD mouse models
Researchers at the University of Versailles-Saint-Quentin tested antisense oligonucleotides (ASOs) targeting exon 51 skipping of the DMD gene in mdx52 mice, models of Duchenne muscular dystrophy (DMD) with exon 52 deletion, thereby disrupting dystrophin (Dp427) expression in the brain: previous work by the same researchers had shown that these ASOs were truly effective in targeting … [Read more]
Organoids to understand the limited effectiveness of gene therapy in DMD
Researchers at the Institute of Myology* and Genethon have developed muscle organoids, called ‘MYOrganoids’, that reproduce Duchenne muscular dystrophy (DMD) in order to study gene therapy in greater detail. The ‘MYOrganoids’ were obtained from skeletal muscle cells derived from induced pluripotent stem cells from DMD patients co-cultured with fibroblasts from patients to accelerate their structural … [Read more]
