Michelle Mellion, MD, Chief Medical Officer at PepGen, discusses results from the CONNECT2-EDO51 study testing the safety and efficacy of PGN-EDO51 in people with Duchenne muscular dystrophy (DMD) amenable to exon 51 skipping.
DMD affects the muscles, leading to muscle wasting that gets worse over time. DMD occurs primarily in males, though in rare cases may affect females. Symptoms include progressive weakness and atrophy of both skeletal and heart muscle. Early signs may include delayed ability to sit, stand, or walk and difficulties learning to speak. Muscle weakness is usually noticeable in early childhood. DMD is caused by genetic changes in the dystrophin gene.
PGN-EDO51 is an investigational enhanced delivery oligonucleotide therapy. As Dr. Mellion explains, the compound is designed to better penetrate muscle cells and nucleus, leading to optimized tissue delivery and nuclear uptake of the oligonucleotides.
Initially, a phase 1 study was conducted in healthy adult volunteers where PGN-EDO51 had effective delivery and high levels of exon skipping after one dose. The compound is currently in an ongoing, phase 2, open-label study. Objectives include evaluating the safety and tolerability of the therapy following multiple doses in male patients with DMD amenable to exon 51 skipping. Dystrophin levels in the skeletal muscle are also being evaluated.
For more information, click here.
To learn more about DMD and other rare musculoskeletal disorders, visit https://checkrare.com/diseases/musculoskeletal-diseases/