06/17/2022 | Neo-equine children will be the first to benefit from genetic screening of the newborn for the initial treatment of infantile spinal muscular atrophy.
Infantile spinal muscular atrophy. The name is barbaric, the disease is more. A nightmare that affects a hundred children a year in France. Few patients with the most severe form of this genetic disease, i.e. 80% of them, live less than 2 years. Faced with this rare disease that gradually loses muscle strength, until the lungs and heart fail, treatment exists. If they allow children to survive, they often retain a serious disability, when it is not too late to be able to begin screening treatment. But a revolution is unfolding: a pilot study will begin in New Aquitan and the Grand East to allow genetic screening of newborns in these two regions. Purpose: To treat before symptoms appear and to lead a “normal” life for these children and their families.
During motherhood, neonatal screening is nothing new: at each birth, a few drops of blood are taken on screen from babies for six diseases, including cystic fibrosis, hypothyroidism and sickle cell disease. “Biochemical analyzes are used to identify the biological markers of these diseases,” explains Christian Cottet, managing director of AFM-Téléthon. The idea is to provide the best possible comfort and even appropriate and immediate care for the patient.
“Finding disease in patients with no symptoms”
The reasoning may be the same for the treatment of muscular atrophy of the spinal cord of the child. Science and clinical studies have shown: “In the first months of a child’s life, using treatment before symptoms appear is the best way to keep children healthy. So we must find the disease in patients who do not yet have symptoms to adapt to their treatment.” Lougel explains that he is a neurologist and head of the Neuromuscular Disease Reference Center at Strasbourg University Hospital.
The problem is, there are no biochemical signs in the early stages of infantile spinal muscular atrophy, and babies affected at birth are usually just like any other baby, in seemingly good health. The only way to confirm the existence of this disease is to “find a double mutation in the SNM1 gene responsible for it,” explains Christian Cottet. In other words, genetic screening of the newborn.
This screening, through a pilot study, will be launched in the autumn for the first time in France in two regions: Grand East and New Aquitaine. “And this is really urgent, because about 60 serious type 1 SMA babies are born each year, half are not treated because they are detected too late,” lamented the director of AFM Téléthon, who strongly supports France’s delay. Does. Area: “Newborn Screening and Therapeutic Progress Go Together!”
Section 27 of the Bioethics Act
Other countries have, in fact, already approved these genetic tests, and have made it possible to “save” or reduce the harmful effects of this disease on children. In Belgium, this is especially the case with 3-year-old Oscar, who benefited from this test at birth. “Oscar goes everywhere, it’s an electric battery! He ran and jumped everywhere! “He is a lively little boy,” said his father. Gene therapy has changed our son’s destiny, ”said his mother emotionally.
A miracle of science from which French families will soon benefit. The Bioethics Act of 2021 and its 27th paragraph now allow genetic testing of newborns in our country. The States-General of Bioethics has underlined the Director General since 2018, the result of a strong solidarity led by families of primarily sick children.
“A simple and targeted genetic analysis”
In concrete terms, this screening is “a simple genetic analysis. To perform this analysis, two extra drops of blood will be taken from the newborn. It will only detect this SNM1 gene and its double mutations involved in infantile spinal muscular atrophy. Nothing else. Do not open the door to sequencing, as some would like us to believe! But it is a real revolution because it is unique in France and means that we are opening the way for screening for other diseases using genetics. We are bringing this screening into the current practice of modern medicine. Professor Didier Lakomb, a geneticist and coordinator of the New Aquinas Regional Neonatal Screening Center at Bordeaux University Hospital, is involved in the project.
If the effectiveness of pre-symptomatic treatment is no longer proven, the goal of the experimental study, which will be conducted in the autumn in two test areas, is to determine the probability of testing. Because scale change is important. “At the Genetic Analysis Laboratory, we are accustomed to working with a few samples. There we open the field for mass screening as in New Aquitan, 110,000 births occur every year and so soon there is a lot of screening. We must implement the restructuring of our laboratories. “
Expand as soon as possible
Nationally, it produces 700,000 births each year … resources are needed to get to this “industrial scale”, “new bodies, respectable deadlines for treatment effectiveness, a study of direct costs and persuasion, an integration into the entire chain of maternity wards for childcare.” , Good information for parents … “Professor Logel calculated.
“These two years will allow us to identify and treat a sufficient number of patients, with 8 or approximately 16 babies being born each year and in each region. But we also have the desire not to expect too much. One year later, with the approval of the national authorities, we are considering the possibility of integrating with other regions of the system to expand this possibility of neonatal screening as soon as possible, ”said Professor Logel.
The device is estimated to cost 4.8 million euros or € 22 per patient related to the study “considering the cost of research”. When screening doctors, maternity wards and other responders are included in routine activities, the cost per patient will be halved “by at least two”, officials say.
Although France was a pioneer in neonatal screening in the 1970s, it is now significantly behind other countries. Some have already been screened for more than 15 pathologies (Austria, Spain, Iceland, Hungary, Portugal, etc.) and others have already opened, with the advent of effective innovative treatments on the market, from genetic screening of newborns and atrophies, especially for spinal muscle atrophy, Belgium, United States, Japan, Quebec …
By Solin Merrick
Photo Credit: Shutterstock – Irina Inshina