It is now a well-established appointment. Each year, the French Association against myopathies (AFM-Téléthon) organizes a press conference a few days before the official launch of the famous charity event. This brings together the leaders of the association, researchers from Généthon – the laboratory created in 1990 by the association and specialized in gene therapy -, but also families, living proof of the benefits of research and the generosity of French during this television marathon which raised 73 million euros in 2021.
This year, this living proof wore a pink vest and blonde pigtails. Sitting on her dad’s lap, Lucie, 21 months, listens distractedly to the story her mom is telling in front of an audience of journalists. That of a little girl born in good health, but who, over the months, seemed not to progress much. Lucie was 4 months old when she was diagnosed with spinal muscular atrophy type 1. This neuromuscular disease, which affects one in 7,000 births (i.e. 120 babies each year), is the leading cause of genetic mortality in infants. In the most severe forms, the child dies before two years.
Not Lucie, who had gene therapy. A single injection, which made “that the gene he was missing was able to settle in his whole body and all his cells. It saved his life.”summarizes his mother. “Today she is doing very well, she is moving very well, she is starting to stand up, she is raising her arms very high. She even does stupid things.
A beautiful story like the Telethon has been delivering for 35 years, but also the symbol of a long-standing fight for the deployment of early detection of spinal muscular atrophy. Because unlike 95% of rare diseases, this pathology can be combated by treatment. Which are only effective when administered very early, ideally before the first symptoms appear. “Leaving aside treatment, implementing the right diet can save lives, emphasizes Laurence Tiennot-Herment, head of AFM-Téléthon. But for that, the pathology must be detected. »
Birth screening tested in two regions
In France, the association won a first round, since an experiment was launched in maternity wards in the Grand Est and Nouvelle-Aquitaine regions to assess the benefits and above all the feasibility of genetic screening at birth, authorized in France since the revision of the bioethics law. The device, launched for two years, plans to diagnose around thirty babies.
“In concrete terms, it involves taking two drops of blood, in addition to the five that are already taken for the Guthrie test, carried out in the first three days of life. (to screen for six diseases including cystic fibrosis, editor’s note). The blood test can only be done with the authorization of the families, who must also give their agreement for their child to receive early treatment and will benefit from psychological support when the disease is announced.
If the experience is conclusive, neonatal screening for spinal muscular atrophy could become systematic, as is already the case in Germany, Belgium and the United States. But Laurence Tiennot-Herment already warns that she will not stop at this disease. “50 years ago, France was a pioneer in neonatal screeningshe points out. Today, with seven diseases detected at birth, we are 22nd out of 30, and even adding the seven pathologies that will be detected in 2023, we remain 15th, far behind Italy where we detect 50 pathologies. For us, association of patients and parents of patients, this delay is unacceptable, because it represents a real loss of opportunity. »
For the association, this delay can be explained by financial reasons – screening has a cost, and even more gene therapy treatments – but also by the image conveyed by genetic screening, sometimes perceived as an open door to ‘eugenics.