“For lysosomal diseases there is no doubt that screening is useful, indeed necessary. To be effective, however, the test must be carried out within 72 hours of the newborn’s life”. Thus Giancarlo La Marca, director of the neonatal screening laboratory enlarged, Meyer University Hospital of Florence, on the sidelines of the presentation of the report of the AstraRicerche Institute with the ‘best practice’ experiences of two regions – Veneto and Tuscany – illustrated today in the context of the second edition of ‘Raro chi trova’, initiative promoted by Takeda Italia under the patronage of the Italian Society of Pediatrics (Sip), the Italian Anderson-Fabry Association (Aiaf), the Italian Gaucher Association (Aig), the Italian Mucopolysaccharidosis Association (Aimps) and Cometa Asmme, Association for the Study of Hereditary Metabolic Diseases.
“For this test – explains La Marca – we use the same classic blood sample, between 48 and 72 hours of life, from the heel of the newborn, the same procedure for sending the sample, the same personnel and the same technology. This is the great advantage of the extension and inclusion of lysosomal storage diseases to the national panel that is in effect today.The main objective of the screening is to anticipate the symptoms of the defect and therefore this is the right time interval, the optimal time window Arriving too early could mean enzymatic immaturity, arriving too late could mean, on the contrary, a delay in diagnosis”.
Screening for lysosomal diseases “is indicated for all newborns – assures the expert -. It has been demonstrated that there is an effective benefit between the early identification of the defect”, i.e. the deficiency (or total absence) of some lysosomal enzymes , “and the early initiation of treatment. Starting the treatment in the shortest possible time certainly gives an increase in life expectancy and an improvement in the quality of life”.
Regarding the example of ‘best practice’ of the Tuscany Region, where from 2014 to 2022 177,000 newborn screenings were carried out, 26 cases of Fabry disease were diagnosed, 1 case of mucopolysaccharidosis type 1 and 15 of Pompe disease, La Marca did not has doubts: “Around 180,000 tests carried out in the pilot project in Tuscany represent a significant number and the frequency data are a strong rationale for the extension”. taken into consideration as a whole. Individually they are rare diseases but within the panel of metabolic diseases they are relatively frequent ”he concludes.