2024-07-22 12:00:00
There are approximately 124 new cases of spinal muscular atrophy in France every year. This genetic disorder affects one in 100,000 newborns and presents with progressive muscle weakness from the first months of life. In the most severe cases, a child may die before the age of two. Proximal spinal muscular atrophy is caused by abnormalities in the SMN1 gene located on chromosome 5.
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At the beginning of 2023, AFM-Téléthon, in collaboration with the University Hospital of Strasbourg, the University Hospital Center of Bordeaux, the regional health institutions of the Grand Est and Nouveau-Aquitaine, and with the support of the FILNEMUS health department and DGOS, in partnership with three pharmaceutical companies, will The Depisma study allows neonatal genetic screening for spinal muscular atrophy in all maternity wards in the Grand-Est and Nouvelle-Aquitaine regions.
During this period, approximately 85,000 babies were screened in 81 different maternity wards. The results are encouraging: “Babies who were screened and eligible for treatment were treated on average at 23 days of age. Depisma’s latest data shows that 8 patients were screened and diagnosed with no false positives, 5 patients received gene therapy, and 2 Two patients are under close monitoring because their condition is mild and are not eligible for treatment, and one patient is in serious condition and is under close monitoring.
Develop a treatment plan
July 10, 2024 higher authority for health Publicly expressed positive views on extending newborn screening for spinal muscular atrophy to all of France. Innovative therapies make it possible to implement three treatments, two of which are proven and reimbursable for symptomatic infants. “Screening for SMA from birth has been available in many countries for many years, and clinical trials and the use of these treatments have shown that treatment before symptoms of the disease appear is much more effective,” the senior health authority stressed.
This early detection allows for rapid treatment before some newborns show their first symptoms. As a result, the infant’s chances of survival can be optimized and their quality of life improved. Scientists have found that early treatment, before symptoms appear, can help improve a patient’s ability to move, breathe, and nourish themselves, as well as their quality of life. For this reason, screening for this disease must be included in current newborn screening.
How to conduct this test?
This screening can be done by drying blood on a few drops of blotting paper and uses polymerase chain reaction technology. HAS recommends combining this with severe combined immunodeficiency (SCID) screening because the technology is the same. The former health secretary had promised to roll out SMA screening at birth by summer 2025 at the latest. In a recent press release, AFM-Téléthon implores the new government to fulfill this commitment.
Currently, 13 conditions are screened for at birth: cystic fibrosis, sickle cell disease, congenital adrenal hyperplasia, congenital hypothyroidism, phenylketonuria, MCAD deficiency, homocystinuria, Leukocytosis or “maple syrup disease”, tyrosinemia type 1 (associated with genetic disease). , long-chain fatty acid deficiency and primary carnitine deficiency.
“To prevent babies from being born with the most severe forms of spinal muscular atrophy and going on to die, every day counts. We call on the authorities to implement spinal muscular atrophy screening in all maternity wards in France as soon as possible to save lives wherever they are.” babies at risk. She encouraged France to stop delaying and denounced “the failure to provide assistance to babies at risk, while babies born in our country remain victims”.
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