Today in all newborns, a drop of blood is taken from the finger or the heel to screen for seven diseases or deficiencies, such as cystic fibrosis or deafness. From this fall, in New Aquitaine and in the Grand Est, a second drop will be taken to carry out a genetic test. The purpose of this pilot study is to detect infantile spinal muscular atrophy from the first days of life: “Technically it’s a DNA study. Until now, the tests that we did were essentially biochemical tests, that is to say, we did not look at DNA, but only indirect markers of diseases. Here we are really going to look at the causal anomaly, on the DNA of children”explains Professor Vincent Laugel, neuropediatrician at the University Hospital of Strasbourg
The new bioethics law allows this genetic screening. Spinal muscular atrophy affects one in 7,000 children, or around a hundred babies per year in France. It is a disease where the patient gradually loses his muscular strength, until the main muscle, the heart, fails in turn.
Fortunately, there have recently been effective treatments, explains Christian Cottet, general manager of AFM Téléthon: “We stop the death of the motor neuron, so we stop the disease. It’s a bit like freezing the situation where the patient is when he is treated.”
Often, the patient is already severely disabled at the time of diagnosis. Because today, patients with spinal muscular atrophy are diagnosed only when the disease is triggered, at the first symptoms, which can appear at any age of life. The idea is therefore to freeze the disease as early as possible, from birth.
The results are impressive. Little Oscar, for example, was diagnosed in Belgium as a baby. Three years later, “Oscar, today, moves in all directions. He doesn’t stop, he’s a real electric battery!” testifies his father. “He jumps everywhere, he runs everywhere, he is full of life. He is a perfectly normal 3-year-old boy”confirms his mother.
This pilot study of screening newborns in New Aquitaine and Grand Est should last two years, before perhaps being generalized to the whole of France.
Improving the detection of spinal muscular atrophy in babies: report by Solenne Le Hen
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