Suffering from spinal muscular atrophy, Victoire received a gene therapy treatment derived from technologies developed at Genethon. Her mom recounts the anguish of the diagnosis, the immense relief of the treatment and the little girl’s spectacular progress in the weeks following the injection.
Victoire was diagnosed at the age of 8 months. While she seemed like all other babies at birth, the first signs of the disease, a lack of muscle tone in particular, were soon observed. But the official diagnosis of type 1 spinal muscular atrophy was not made until she was 8 months old. It was devastating for Victoire’s family. “I didn’t hear anything except that my baby was likely to die in the first two years of her life”, her mom remembers.
Thankfully, a gene therapy treatment derived from technologies developed at Genethon had been authorized in France for a few months at that time. An appointment was made at Necker hospital, where Victoire received a single injection, able to halt the progress of the disease. “There was silence in the room, it was very intense… It was a magical moment as we watched the little droplets fall and said, that’s it, she’s saved.”
The treatment that helped Victoire quickly bounce back is called ZolgenSMA. Authorized in France since 2020, it is derived from the work conducted by Martine Barkhats at Genethon between 2004 and 2011. Along with her team, she developed a gene therapy treatment and demonstrated its effectiveness in a preclinical setting. A few years later, a US biotech started a clinical trial based on the product developed at Genethon. The results on children treated are spectacular, and the product obtained marketing approval on the US market in 2019, then in the European Union in 2020. Since then, 1,400 babies worldwide suffering from SMA have received this gene therapy treatment.
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