HAS recommends including 7 new rare diseases

Currently in France, neonatal screening, which aims to detect from birth certain rare diseases that can be treated before the onset of symptoms, concerns 5 diseases: phenylketonuria, congenital hypothyroidism, sickle cell anemia, congenital adrenal hyperplasia and cystic fibrosis.

As soon as an infant is born, a drop of blood is taken from his heel and collected on paper buvard to perform biological tests (fully covered by Health Insurance). However, according to the High Authority for Health (HAS) is not enough, France is lagging behind in the area of ​​neonatal detection of rare diseases. By way of comparison, Sweden and Austria screen for 24 diseases, Belgium more than a dozen.

Preventive treatment that would reduce mortality

In a notice published on February 3, HAS announces that the shortage of acyl-CoA dehydrogenase in medium-chain fatty acids (MCAD), a rare inherited metabolic disease that prevents the body from assimilating fat, will also be integrated into the National neonatal screening program (DNN) this year. This follows a recommendation from 2011 “to prevent easily preventable deaths” with “simple dietary rules”.

“Although children with MCAD deficiency do not have symptoms at birth, explained HAS in 2011, they can develop a metabolic crisis during the fasting period (during a common infection, for example). The latter can quickly lead to a coma or death. (…) When started early, preventive treatment reduces morbidity and mortality to almost zero. ”

Seven new diseases recommended

The HAS also recommends including in the Neonatal Screening Program (DNN) seven new rare hereditary diseases, following an in-depth study of 24 diseases carried out by 35 experts (clinicians and biochemists / biologists): “Leucinosis (MSUD), homocystinuria (HCY), tyrosinemia type 1 (TYR-1), glutaric aciduria type 1 (GA-1), isovaleric aciduria (IVA), dehydrogenase deficiency of long chain hydroxyacyl-CoA (LCHAD), and the deficit in carnitine uptake (CUD) ”. These 7 new diseases would be added to the 5 pathologies already screened and to the MCAD which will be this year.

Three categories of diseases were defined during the evaluation of the experts, she explains: within three years (depending on new data expected), and those whose knowledge does not allow them to be offered in the DNN program, the criteria not being met to date. ”

However, the official registration of these 7 new pathologies to the DNN program will require evaluation the organization of the 13 medical centers concerned, as well as maternities.

–