Everything You Should Know About Genethon’s Gene Therapy GNT0004 for Duchenne Muscular Dystrophy

As treatment options developed for Duchenne Muscular Dystrophy disease begin to be announced, Genethon GNT0004 Gene Therapy is eagerly awaiting the results of its final phase trials.

The pivotal phase of the trial, which is scheduled to begin in Q2 2025, is now being prepared by Genethon. What is Genethon’s Gene Therapy GNT0004, which is under development for Duchenne Muscular Dystrophy?

What is Genethon’s Gene Therapy GNT0004?

GNT0004 is a serotype 8 adeno-associated virus (AAV8) vector gene therapy that incorporates a truncated functional variant of the DMD gene (hMD1). The hMD1targets expression in skeletal and cardiac muscle is driven by a Spc5.11 promoter.

Genethon’s Gene Therapy GNT0004 is an experimental gene therapy being developed for the treatment of Duchenne Muscular Dystrophy (DMD), a rare and severe genetic disorder that leads to progressive muscle weakness and degeneration. DMD is caused by mutations in the dystrophin gene, which leads to a lack of the dystrophin protein essential for muscle function.

How Genethon’s Gene Therapy Works?

GNT0004 aims to address this by using a viral vector to deliver a corrected version of the dystrophin gene to the patient’s muscle cells. Specifically, this therapy focuses on providing a shorter version of the dystrophin protein (sometimes referred to as “mini-dystrophin”) that is functional enough to help maintain muscle integrity and function, even though it is not a full-length version of the protein.

Goal of Genethon’s Gene Therapy

The goal of GNT0004 is to slow or halt the progression of muscle damage in DMD patients, particularly for those with certain mutations in the dystrophin gene that can be targeted by the therapy. As gene therapies for DMD are still in the early stages of clinical trials, GNT0004 is being carefully evaluated for safety, efficacy, and long-term benefits.

Time Table of The Clinical Trial of GNT 0004

Genethon Announced First Patient Dosed

On April 23, 2021, Genethon announced that the first patient had been dosed in the clinical trial of the investigational gene therapy GNT 0004 for Duchenne muscular dystrophy. [Read More: Announcement for First Patient]

Result of First Phase

Genethon has reported positive results from its first phase of gene therapy GNT0004.

  • 8 weeks after injection, up to 85% of muscle fibers expressing microdystrophin (mean 54%; 15%-85%) measured by immunohistochemistry, and reconstitution of the dystrophin-associated protein complex. This expression coincides with a significant number of vector genome copies/muscle fiber nuclei, up to 2.4 (mean 1.2; 0.4-2.5).
  • A decrease in CPK levels (a biomarker of muscular distress) comprised between 50% and 87% (mean: 74%) 12 weeks after treatment, and persistent (up to 18 months of follow-up for the first patient treated at this dose).

Learn More: Result of First Phase of GNT0004

Positive Initial Results from a Phase 1/2/3 Trial

Genethon has announced on November 19, 2024, the results of the Phase 1/2/3 Trial of its Gene Therapy (GNT0004) for Duchenne Muscular Dystrophy.

  • Eight weeks after injection, up to 85% of muscle fibers expressed micro-dystrophin(mean 54%; 15%-85%) as measured by immunohistochemistry, and reconstitution of the dystrophin-associated protein complex. This expression coincides with a significant number of vector genome copies/muscle fiber nuclei, up to 2.4 (mean 1.2; 0.4-2.4).
  • A fall in creatine phosphokinase (CPK) levels (a biomarker of muscular suffering) of between 50% and 87% (mean: 74%) 12 weeks after treatment, and persistent (up to 18 months of follow-up for the first two patients treated at this dose).

Learn More: Result of Phase 1/2/3 of GNT0004

The critical phase of the clinic trial will begin in the second quarter of 2025

Genethon has received positive feedback for its GNT0004 ​​gene therapy, the world’s second and Europe’s first, for Duchenne muscular dystrophy. The company announced that the final phase study will begin in the second quarter of 2025.

Learn More: Will Elevidys Receive Approval from the European Medicines Agency (EMA)?

Will Genethon’s Duchenne Muscular Dystrophy Gene Therapy GNT0004 be successful?

While the progress in gene therapy for DMD is exciting, much depends on continued research and trial outcomes. For a definitive answer on GNT0004’s success, we will need to wait for more data from ongoing studies.

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