Genethon Advances Gene Therapy Innovations on Rare Disease Day 2025
Genethon, a pioneering gene therapy research organization founded by the AFM-Telethon, marks Rare Disease Day by showcasing groundbreaking technological advancements that promise to usher in the next generation of gene therapies. These innovations aim to improve the safety, efficacy, and accessibility of life-saving treatments, ensuring that more patients worldwide benefit from cutting-edge medical science.
A Commitment to Transforming Gene Therapy
Rare diseases affect millions of individuals globally, many of whom have limited or no therapeutic options. Gene therapy has emerged as a revolutionary treatment approach, offering hope for patients suffering from complex genetic disorders. Genethon remains steadfast in its mission to enhance gene therapy technologies, focusing on increasing treatment efficacy, overcoming immune-related challenges, and reducing production costs to make these therapies more affordable and widely available.
“Genethon remains more committed than ever to the development of these innovative drugs for the benefit of patients,” affirmed Frédéric Revah, Ph.D., CEO of Genethon.
As a leader in the field, Genethon is pioneering new scientific techniques aimed at improving vector efficiency, which is crucial in addressing the fact that approximately 40% of patients naturally exhibit immunity to certain viral vectors used in gene therapy. By developing novel methods to bypass this immunity, Genethon aims to extend the benefits of gene therapy to a broader patient population.
Harnessing Artificial Intelligence to Improve Vector Efficiency
One of the most promising areas of development in gene therapy is the enhancement of viral vectors—carriers used to deliver genetic material into a patient’s cells. Adeno-associated virus (AAV)-based vectors have been widely used in gene therapy due to their ability to effectively transfer genes with minimal risk of integrating into the host genome. However, natural AAV vectors present certain limitations, including the need for high doses in treating neuromuscular diseases and the risk of adverse effects when excess vectors reach unintended tissues.
Genethon is leveraging artificial intelligence (AI) to design next-generation AAV capsids specifically engineered for enhanced targeting of skeletal muscle. By utilizing AI-driven computational models, researchers can predict and create optimized capsids with improved tissue specificity, greater efficiency, and reduced immunogenicity. This innovation holds significant promise for the treatment of neuromuscular diseases such as Duchenne muscular dystrophy (DMD) and limb-girdle muscular dystrophies (LGMD), which require highly targeted and effective gene delivery methods.
“The application of artificial intelligence in designing AAV capsids represents a major step forward in gene therapy development,” said Dr. Revah. “These scientific advances underline the potential of our R&D and technology developments for designing, developing, and producing innovative and potent gene therapy treatments, and place our science at the forefront of innovation for millions of patients.”
Overcoming Gene Size Limitations with Dual AAV Vector Systems
Another significant breakthrough in gene therapy involves the use of dual AAV vector systems to address the challenge of limited gene packaging capacity. A single AAV vector can carry a maximum of approximately 4.5 kilobase pairs (kb) of genetic material, which is insufficient for delivering certain therapeutic genes whose coding sequences exceed this size.
To overcome this limitation, Genethon has developed a dual AAV vector system that allows for the efficient delivery of larger genes by splitting the genetic sequence into two complementary parts. Once inside the target cell, these separate sequences recombine to form a functional therapeutic gene. This technology is particularly beneficial for diseases such as Duchenne muscular dystrophy, Pompe disease, and specific forms of retinopathy, where larger genes must be accurately delivered to achieve therapeutic effects.
This advancement expands the potential of gene therapy by making it applicable to a wider range of genetic disorders. It also increases the likelihood of achieving long-term efficacy, as the full-length gene construct more closely resembles its natural counterpart, thereby improving cellular function and disease outcomes.
Lowering the Cost of Gene Therapy with Plant-Based Bioproduction
One of the major barriers to widespread gene therapy adoption is its high cost. The complexity of manufacturing viral vectors using traditional cell culture methods leads to significant production expenses, which, in turn, contribute to the high price of these treatments.
Genethon is tackling this issue through an innovative collaboration with Samabriva, a biotechnology company specializing in plant-based bioproduction. By harnessing plant cells as biofactories for AAV vector production, researchers aim to significantly reduce manufacturing costs while maintaining high quality and scalability. This approach could lower the overall price of gene therapy, making it more accessible to patients in need.
“Reducing the cost of gene therapy is critical to ensuring that these life-saving treatments reach as many patients as possible,” said Dr. Revah. “By applying plant-based bioproduction technologies, we are working toward a future where gene therapies are not only effective but also affordable.”
Genethon’s Impact: Transforming Lives Through Research and Innovation
Over the past 30 years, Genethon has established itself as a leader in gene therapy research, with a strong track record of developing groundbreaking treatments. The organization’s efforts have already resulted in tangible benefits for thousands of patients worldwide, including the development of the first gene therapy approved for spinal muscular atrophy (SMA).
Currently, 13 of Genethon’s gene therapy candidates are in clinical trials, targeting a wide range of diseases affecting the liver, blood, immune system, muscles, and eyes. These trials represent significant progress in translating laboratory discoveries into real-world treatments that can improve and save lives.
Advancing Duchenne Muscular Dystrophy Treatment with GNT-0004
Among Genethon’s most promising clinical programs is GNT-0004, a gene therapy for Duchenne muscular dystrophy (DMD). The company recently presented positive results from the Phase 1/2 dose-escalation portion of an international multicenter trial evaluating the therapy’s safety and efficacy. Encouraging data from this study has paved the way for upcoming pivotal trials in Europe and the United States, bringing the therapy one step closer to potential regulatory approval.
DMD is a severe genetic disorder characterized by progressive muscle degeneration and weakness. Current treatments offer only symptomatic relief, highlighting the urgent need for disease-modifying therapies. GNT-0004 aims to address this unmet medical need by delivering a functional version of the dystrophin gene to muscle cells, thereby restoring essential protein function and slowing disease progression.
A Vision for the Future of Gene Therapy
As Genethon celebrates Rare Disease Day 2025, it reaffirms its dedication to advancing gene therapy research and innovation. The organization’s continued efforts in vector optimization, immune system bypass strategies, dual vector delivery, and cost-effective production methods are poised to transform the landscape of genetic medicine.
With each scientific breakthrough, Genethon moves closer to making gene therapy an accessible and effective treatment option for patients worldwide. The organization’s patient-centered approach, combined with cutting-edge research and strategic collaborations, ensures that it remains at the forefront of gene therapy development for years to come.
Through its unwavering commitment to scientific excellence and patient advocacy, Genethon stands as a beacon of hope for individuals affected by rare genetic diseases, paving the way for a future where innovative gene therapies improve lives across the globe.
