The Telethon, which has been collecting donations for 30 years, supports research in gene therapy, which makes it possible to treat many rare and genetic diseases that are a priori irreversible. Thanks to this medical method, a patient suffering from a rare pathology of the eye was able to regain his sight.
The genetical therapya technique created in the 1990s which consists of injecting modified DNA fragments into diseased organs to cure rare pathologies experienced a turning point in 2019, a year which corresponds to the arrival of several treatments on the market in the United States and in several clinical trials in Europe.
The Telethon, whose 33rd edition ended this Saturday and raised 74.6 million euros in donations (i.e. 5.3 million more than the previous year), has been supporting gene therapy for more than thirty years .
Sudden loss of sight
On this occasion, the French association against myopathies (AFM-Telethon) presented the case of a patient, Julien, 37 years old and suffering from Leber’s hereditary optic neuropathy, a genetic eye disease that causes a sudden drop in sight.
For Julien, diagnosed in 2014, this drop in visual acuity occurred in just three months after the announcement of his illness. “I started to see like in the bottom of a bottle, the colors became dull. Suddenly, I no longer saw the features of my face in the mirror”, he confides to AFM-Téléthon.
Shortly after the diagnosis, Julien learns of the existence of a gene therapy trial developed by the French company GenSight Biologics. “I jumped at the chance, I was ready to try anything to enter into a protocol!”, He explains.
Gene therapy could apply to AMD
The gene-drug treatment is injected under his retina. After a year and a half, Julien begins to perceive colors again, then shapes. “Today, I move around without a cane in the street, I no longer have to count the metro stations because I can read their names. I can even see my wife’s face again!” he.
The gene therapy drug that Julien received is part of a clinical trial conducted on 70 patients in Europe and the United States. For more than 15 years, AFM-Téléthon has been supporting gene therapy work for rare vision diseases, in particular for Leber’s optic neuropathy, as well as retinitis pigmentosa, a degenerative genetic eye disease.
A gene therapy trial by injection of a patch under the retina has been carried out in France since September on patients with retinitis pigmentosa. If the results prove conclusive, the treatment could be adapted to people with age-related muscle degeneration (AMD), the leading cause of blindness in people over 50.
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