They are waiting to be included in the panel of rare diseases to be tested with the SNE. The 2019 Budget Law provides for it but the approval of the “Tariff Decree” is still awaited. The experience of Tuscany and Veneto (where the birth test is done)
There are gods easily performed tests at birth to identify rare lysosomal storage diseases in the first days of life, therefore intervene with effective therapies that allow the little ones to have one almost normal life or at least avoid serious disabilities or even fatal outcomes. Although the budget law 2019 (art.1 paragraph 544) establishes theirs inclusion in the national list of rare diseases to be tested thanks to expanded newborn screening (ENS), this is still not the case today. The birth testInstead, you do for years already in some regionsas Tuscany and Venetowhose experiences have been the subject of a report produced by AstraRicerche and presented in the context of the second edition of «Raro chi trova», an initiative promoted by Takeda Italia with the patronage of scientific societies and patient associations.
Waiting for the ruling
The lysosomal storage diseases they are caused by a defect or the absence of one of the enzymes contained in the lysosomes; they have a progressive course that leads over time to the deterioration of vital functions, often with an unfortunate outcome. The urgency of extending the ENS to include these diseases as well is confirmed once more by the experiences of Tuscany and Veneto. Moreover, the 2019 budget law provides for it (it also extends newborn screening to other groups of diseases such as genetic neuromuscular diseases and severe congenital immunodeficiencies, ed).
To date, the hub to guarantee a all children born in Italy have the same right to prevention and treatment is the approval of the so-called «Rate Decree», which establishes the tariffs to be paid to providers for the services of specialist outpatient and prosthetic assistance included in 2017 in the Lea, the essential levels of assistance to which all citizens are entitled, but not yet available.
The experience of Veneto and Tuscany
In Veneto it has been done since 2015 the test at birth to also detect lysosomal storage diseases such as Fabry, Gaucher, mucopolysaccharidosis type I (MPS I), Pumps. «To date in the Triveneto we have screened more than 250 thousand newborns, the most important case series in Europe – says Alberto Burlina, director of the complex operating unit of hereditary metabolic diseases at the University Hospital of Padua -. The data shows that the frequency is about one affected newborn every 4-5 thousand births. Thanks to early diagnosis in the first days of life it was possible to take charge of these newborns who have been able to start a therapeutic process (consists of the infusion of the missing enzyme and, in some cases, the use of a bone marrow transplant)».
In Tuscany around 180,000 tests have been carried out since 2014 thanks to the pilot project for the screening of Fabry disease, Pompe disease and MPS I. Also in this Region, newborns who tested positive were taken care of from birth.
«Newborn screening is carried out only for diseases that respond to precise characteristics that is to say
availability of a test, its applicability to the entire population of newborns, the availability of treatments – clarifies Giancarlo La Marca, director of the “Expanded neonatal screening laboratory” at the Meyer University Hospital in Florence -. The newborn screening program is one of the most efficient prevention systems and there is no doubt that it is also necessary for lysosomal storage diseases.’
The voice of the patients
That newborn screening is one essential tool for early diagnosis of diseases that could otherwise lead to an unfortunate outcome or serious disability, therefore for timely initiation of available therapiesthis is confirmed by the patients, their family members and the associations that represent them.
“The impact of hunter syndrome (also known as mucopolysaccharidosis II or MPS II) is dramatic – says the president of theMucopolysaccharidosis Italian Association, Flavio Bertoglio, who four years ago lost his son to this disease – . Today it is possible to diagnose these diseases at birth, which makes it possible to think in the first years of life of a transplant of stem cells taken from the umbilical cord (which do not cause rejection) and, obviously, to undergo enzymatic replacement therapy”.
As for the Gaucher diseaseexplains Fernanda Torquati, president of theItalian Gaucher Association, «the impact varies a lot according to the type: type II is a neurological form, with very short life expectancy (even just a few months), with terrible suffering for the child and the parents; Types I and III can be completely different from case to case: children can be asymptomatic with a normal life, or they can have severe forms. St
Without diagnosis or with late diagnosis, life expectancy is reduced, even by decades».
“In the Fabry disease – explains Stefania Tobaldini, president of the
Anderson-Fabry Italian Association –
the patient survives the birth, but with a neonatal diagnosis unnecessary visits and unnecessary wanderings among doctors would be avoided. Knowing what you have, you grow with awareness of the disease, which can also be managed on an emotional level, you can plan the check-ups to do, you have the possibility of starting the therapies as soon as the doctor deems it necessary» concludes Tobaldini.
March 29, 2023 (change March 29, 2023 | 16:50)
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