The paper presents findings from a phase 3 clinical trial (EMBARK) evaluating the efficacy and safety of a gene therapy, delandistrogene moxeparvovec, in patients with Duchenne muscular dystrophy (DMD). DMD is a severe, inherited condition that progressively weakens muscles due to the absence of dystrophin. The therapy uses an AAV vector to deliver a functional dystrophin gene into muscle cells. The trial involved boys aged 4 to 8, who were …

more

Personal take on this article: Duchenne Muscular Dystrophy (DMD) is a severe genetic disorder caused by mutations in the dystrophin gene, leading to progressive muscle deterioration. The lack of functional dystrophin causes muscle weakness, cardiac and respiratory issues, and ultimately leads to early death. Traditional treatments like corticosteroids only delay the disease progression and are associated with serious side effects. In recent years, gene and antisense therapies have emerged as …

more

    Personal take on this article:   The study investigates the role of high mobility group box protein 1 (HMGB1) as a potential biomarker for Duchenne muscular dystrophy (DMD) by utilizing RNA sequencing in mouse models and human induced pluripotent stem cell (iPSC)-derived skeletal muscle cells. The findings suggest that HMGB1 is elevated in DMD conditions and can be reduced with gene therapy using microdystrophin. This indicates that HMGB1 …

more