After a year of significant breakthroughs in 2021, 2022 sees Genethon continuing its efforts in face of the medical and technological challenges of gene therapy for rare diseases, helping patients and their families.
2021 was a particularly significant year for Genethon. A gene therapy drug using technologies developed by Genethon was used to treat 1,400 children worldwide suffering from type 1 spinal muscular atrophy, a condition considered to be incurable a few years ago, and causing children to die during the early years of life.
The year saw several clinical breakthroughs. The first positive results were published for the clinical trial for Crigler-Najjar syndrome, a serious liver condition that causes a sometimes fatal build-up of bilirubin in the body. Patients treated in the second cohort of the trial were able to stop phototherapy, which they had previously had to undergo up to 12 hours a day to control bilirubin levels. The challenge now is to determine the stability over time of the therapeutic effect observed.
Furthermore, two clinical trials began in 2021: one for Pompe disease, conducted by Spark for a product which Genethon helped develop, and the other conducted by Genethon for Duchenne muscular dystrophy. This trial had to be temporarily interrupted due to a serious side effect, but a new protocol, submitted to the ANSM, could allow us to resume inclusions within a few weeks.
Let’s not forget the start-up authorization for the FKRP myopathy clinical trial, obtained at the very end of the year by Atamyo, a spin-off company of Genethon, and the continuation of the other clinical trials led by Genethon or by our partners with products derived from our research.
The research teams, including the UMR Integrare, the platforms and the technological developmten team, are not lagging behind, with over 30 major publications in peer-reviewed journals.
2022 also promises to be a year filled with innovations and new challenges. Beyond the current trials, which will continue, several new clinical trials could start up or enter the preparation phase with Atamyo in 2022, for neuromuscular diseases including FKRP-related limb girdle dystrophy, gamma-sarcoglycanopathy and calpainopathy. A trial for spinal muscular atrophy associated with progressive myoclonic epilepsy (SMA-PME) could be submitted for authorization.
The R&D teams will work to offer new gene therapy approaches for an ever-increasing number of patients. Optimization of vectors is a focus for strategic development: the goal is to improve the targeting of the organs to be treated, which will help reduce the doses to be injected, and ultimately, reduce potential side effects and reduce costs. Understanding and eliminating these side effects is also a key element of our strategy. Work in the field of immunology applied to gene therapy will be strengthened.
The innovation and bioproduction efforts led by Genethon will be crucial to reducing production costs for gene therapy products. They will thus help consolidate the original economic model of our non-profit organization, whose primary goal is to provide treatments at affordable costs, ensuring that all those who need them can receive them.