Last year, Doctor Caroline Espil-Taris received in the neuropediatrics department at Bordeaux University Hospital the parents of Marley and Mylane who had just been diagnosed with spinal muscular atrophy. Pediatric neurologist, head of the pediatric neuromuscular diseases reference center, at the heart of the Dépisma pilot project, set up in 2022, she treated the little girls.
Can you explain to us what the Dépisma project is, and why it is only implemented in New Aquitaine and the Grand-Est?
Dépisma is a project supported and co-financed by the AFM-Téléthon, in particular. It concerns infantile spinal muscular atrophy (ASI), a serious genetic disease which affects motor neurons leading to progressive muscle paralysis. In its most severe form, children die before their second year. One in 7,000 children is affected. Now, there are treatments, including gene therapy, which, administered in the first days of life, before the first symptoms appear, can contain the disease. But for this, children must be screened from birth. The goal of Dépisma is to prove the feasibility and efficiency of large-scale screening, so that it can be generalized throughout the country. We are in a pilot project.
How many children have been screened in two years, and how many have been diagnosed with ASI?
As of July 31, 2024, in the two regions, 134,466 babies were screened, including 66,965 in New Aquitaine, a participation rate of around 94%, beyond our expectations. 11 children were diagnosed in total, 8 of whom were able to be treated. There are different forms of the disease, the symptoms of which will appear later in the patient’s life, and for these we are not authorized to provide treatment before the emergence of signs of the disease.
“Its administration so early dramatically transforms the prognosis of this disease”
What happened to twins Marley and Mylane who were able to benefit from early treatment?
I received the parents when the tests carried out in Rochefort (17), where the little girls were born, revealed the diagnosis. Genetic screening is performed at the same time as the Guthrie test (1). The parents left the maternity ward with two healthy babies. Learning that they suffered from a very serious genetic disease was a shock. But I informed them of the effectiveness of the treatment that had to be administered in the following weeks. They agreed, after a second genetic test confirmed the first. The babies received the gene therapy treatment, in the form of a single injection, on their 23rd day. Its early administration dramatically transforms the prognosis of this disease.
How does this medicine work, and for how long?
This gene therapy treatment is reserved for young children: this “one shot” injection allows an inactivated virus carrying the missing gene to be infused into the child, which takes its place in the cells to compensate for the disease and block the symptoms. . Without this treatment, the girls would not have been able to hold their heads up, and would have had no motor skills. Today, they have perfect development, and will be monitored by our service regularly.
(1) Collection of a few drops of blood to detect the presence of 13 rare but serious diseases.
