“20 years ago I would not have imagined this miracle”, a treatment for spinal muscular atrophy using gene therapy

Thanks to donations from the Telethon, which lasts until Saturday evening, researchers have made enormous progress on gene therapy. In particular, a treatment has been found for a rare disease that atrophies muscles, spinal muscular atrophy.

The Telethon continues until the evening of Saturday, December 9 and like every year, France Info is a partner of this weekend in the fight against rare diseases. Nearly 91 million euros were collected in 2022. Singer Vianney is the godfather of this 37th edition, who wants to emphasize the progress in gene therapy made thanks to Telethon donations.

In particular, it has made it possible to find a treatment for spinal muscular atrophy when this still seemed unthinkable around ten years ago. Ibrahima, 2 1/2 years old, was born with the most severe form of spinal muscular atrophy, a genetic disease that atrophies muscles, and today he has boundless energy. “As we can see, thanks to gene therapy, there are no problems. He is in great shape, very energetic, he has a lot of imagination. He loves cycling, he loves running everywhere, he “It’s very difficult to find it in stores.”says his mother, Flavia.

An injection to replace the defective gene

But it’s a joy for Flavia, and a pride also for Serge Braun, the scientific director of the Telethon: “20 years ago, I would not have imagined this miracle”. A few years ago, in fact, Ibrahima would probably have died before the age of 2. Like now 3,000 babies around the world and 120 in France, he was able to benefit from a gene therapy injection which replaced the defective gene in him. This injection is given at the age of six weeks and even before the first symptoms of the disease.

“A single injection is enough, explains Serge Braun. It is a form of virus which carries the desired genetic information, explains Serge Braun. It can travel in the body and pass the blood-brain barrier and go to the motor neurons of the spinal cord to deliver the therapeutic gene. That’s the principle.”.

“This genetic sequence will stay there indefinitely.”

Serge Braun, scientific director of the Telethon

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“As long as the neuron is there, this genetic information will be there and therefore, the neuron will be functional. We have a little more than seven years of hindsight”he specifies.

Généthon researchers, who, thanks to Telethon money, succeeded in developing these gene therapy injections, are now campaigning so that all babies can benefit from screening for spinal muscular atrophy at birth and that they can therefore be treated very early, like Ibrahima. For the moment, this screening is offered to parents at the maternity ward, only as part of an experiment in Grand Est and Nouvelle-Aquitaine. To make a donation for research against rare diseases, the number is 36 37.