Screening from birth for spinal muscle atrophy has been introduced in two pilot areas

Early detection and management of 6 serious childhood illnesses is the goal of the National Neonatal Screening Program, which concerns all neonates in France. The goal is to prevent the occurrence of serious manifestations and complications due to the identification of 6 diseases, at least limit their severity, thanks to preventive therapeutic means. These diseases are sought by biological examination carried out from blood droplets collected on blotting paper: MCAD deficiency (medium-chain-acetyl-coa dehydrogenase), phenylketonuria, congenital hypothyroidism, sickle cell anemia, congenital adrenal hyperplasia and hyperplasia. From next autumn, an additional test, genetic this time, will be carried out at the maternity hospital in the Grand East and Nouvelle-Aquitaine region as part of a two-year pilot project. The initiative, inspired by AFM-Téléthon, raises concerns about screening for spinal muscle atrophy, an organization of patients and parents committed to fighting rare genetic diseases that kill muscle after muscle, neuromuscular diseases.

Spinal cord muscle atrophy is a rare genetic disease whose incidence affects one child in 12,000 births. In France, Hospices Civils de Lyon estimates that about 120 new cases, or about 2,500 patients, of all types (I, II, III or IV) occur each year. It can occur at any age, but is more common in childhood and affects boys as well as girls. This is due to the mutation or absence of the SMN1 gene which is no longer able to provide accurate information to produce a protein called SMN (“survival neurons of motor neurons”). Deficiency of this protein leads to premature death of motor neurons or motor neurons, which no longer transmit commands for movement between the spine and muscles: the latter becomes dysfunctional, weak, and atrophy. In the first six months of life, muscle weakness is severe and progressive, with difficulty swallowing and difficulty breathing. Without treatment, the majority of ISA (pediatric spinal muscle atrophy) type 1 patients (95%) die within the first two years of life due to respiratory failure.

A project that paves the way for screening for other genetic diseases

The purpose of this pilot project is to demonstrate the potential for large-scale genetic screening at birth so that babies can be treated as soon as possible before symptoms begin. “ Today the most severe form of spinal muscle atrophy in 40% of children is detected too late by the healthcare system and they die because they cannot benefit from existing treatment, which is unacceptable. Christian Quett, general manager of AFM-Téléthon, has announced. “ Genetic screening for spinal muscle atrophy at birth is the only way to treat children before the onset of the disease. The challenge is that all children can benefit from this newborn screening and treatment that will change their future. প্রথম Since the advent of the first treatment for spinal muscle atrophy, AFM-Téléthon has been fighting to increase the screening of newborns in this disease so that they can be treated before the first symptoms appear in children, guaranteeing better efficacy. Several countries in the world and Europe, including Belgium, have already performed systematic screening for spinal muscle atrophy at birth.

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In France, this has been possible since the law on bio-policy was amended to allow the use of genetic testing at birth. ” Until 2017, there was no way to stop the inevitable progression of the disease. Treatment transforms into a course of neuromuscular disease, a real revolution. The challenge is to use these treatments in the best therapeutic window before the first symptoms appear. So there is no solution other than systematic screening at birth. Vincent Logel, chief neuropediatrician and head of the Reference Center for Neuromuscular Diseases at the University Hospital of Strasbourg, explained. The ambition of this project, which bears the name Depisma, is to schedule time between diagnosis and treatment so that children can be treated in less than a month. ” Through genetic screening, only one genetic mutation is detected in the SMN1 gene because there is no other identifier for the disease. This probably paves the way for screening for other genetic diseases.. Didier Lackomb, a geneticist and coordinator at the New Aquinas Regional Neonatal Screening Center at Bordeaux University Hospital, said.

At birth, an extra two drops of blood will be taken

So far, neonatal screening has been based on blood droplet analysis in search of biochemical markers. But for some rare diseases caused by a gene failure, these markers are missing, only genetic screening can detect them. During the current “standard” screening procedure, the so-called Guthrie test is used: a drop of blood taken from the baby’s ankle is placed on blotting paper. This blood sample was sent to a special laboratory (13 centers in France) to investigate the presence of 6 diseases. To screen for spinal muscle atrophy during the birth of a newborn, an additional two drops of blood will be taken in the maternity ward and placed on a specific type of blotter for the study. This “SMA” blotter, with parental consent, will be sent to the regional screening center on the same day on which the establishment depends, then analyzed, for example, to search for similar mutations in the SMN1 gene. Genetics Laboratory. Regional. The Depisma project is therefore considered “the first genetic neonatal screening study performed in France”, concludes AFM Telethon.

It should be noted that regarding this neonatal screening, the High Authority for Health (HAS) considers that “ Technological advances now make it possible to multiply the number of diseases screened at birth As such, in 2020 it has led to the development of 7 new diseases (leucinosis, homocysteineuria, type 1 tyrosinemia, type 1 glutaric aciduria, isovaleric aciduria, hydroxyacillin-dehydrogenase deficiency, long-chain CoA, and carnivore). Wants to re-evaluate this possibility for 17 other pathologies, especially to take into account new expected scientific information. However, focus on evaluating it. ” Congenital defects in metabolism “, Condition” Severe, hereditary and which can lead to rapid death in the absence of early intervention. “For most of these diseases, it is a question of taking an adaptive diet, including supplements and vitamins. Although these treatments have a significant impact on the daily lives of children and their families, these treatments are not clinically” heavy. “

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