Genethon showcased promising results for its Duchenne muscular dystrophy (DMD) gene therapy, GNT0004, at the ASGCT conference held in Chicago on November 19-20, 2024.

DMD is a rare genetic disorder that affects approximately 1 in 5000 boys, characterized by the absence of dystrophin, which leads to muscle degeneration and significantly reduced life expectancy.

The GNT0004 therapy employs an AAV8 vector to deliver a shortened version of the dystrophin gene, which is administered through a single intravenous injection.

The Phase 1/2 trial involved five boys aged 6 to 10, with results indicating both safety and efficacy, showing good tolerance and functional improvements following treatment.

Key findings from the trial revealed that up to 85% of muscle fibers expressed micro-dystrophin eight weeks post-injection, alongside a significant decrease in creatine phosphokinase (CPK) levels, suggesting reduced muscle damage.

Patients receiving the effective dose of GNT0004 exhibited stabilization of motor functions over one to two years, with one participant achieving maximum scores on a clinical evaluation scale at 12 months after treatment.

The encouraging results from the trial have prompted Genethon to plan a pivotal trial in Europe and the US, scheduled for the second quarter of 2025.

Frederic Revah, CEO of Genethon, highlighted that the effective dose of GNT0004 is lower than those used in other DMD gene therapy trials, potentially positioning it as a best-in-class treatment.

Genethon is a non-profit organization dedicated to developing gene therapies for rare diseases, employing over 200 professionals focused on various therapeutic products currently in clinical trials.