Rare diseases, newborn screening: 7 diseases to be included in the national panel

There are at least 7 pathologies, or groups of rare pathologies, which would have all the requisites in order to enter the national panel of extended newborn screening: for these diseases – Sma, Gaucher, Fabry, Pompe and Mps I, acquired immunodeficiencies and adrenogenital syndrome – there are validated tests and effective therapies that can change, or even save, the lives of affected infants. There are also experiences of newborn screening, often long-term, carried out in Italy or abroad, which show its feasibility and effectiveness. In addition to these pathologies, which should be included immediately in the national panel, there are others to which the experts look with interest, because they could in turn enter the panel once all the conditions are met and verified. On these groups of pathologies, which can be applied immediately or in the future to enter the list of newborn screening, the point was made with experts and associations this morning, during the conference ‘Extended neonatal screening. 2006-2021, 5 years of progress. Challenges and prospects for the future ‘, organized by the Rare Diseases Observatory with the non-conditioning contribution of Biogen, Chiesi Global Rare Diseases, Novartis, Orchard Therapeutics, PTC Therapeutics, Roche, Sanofi Genzyme and Takeda. In the first group of 7 pathologies, the top priority is for spinal muscular atrophy (SMA), a very serious neuromuscular disease which, in its worst forms, can lead to extremely early death. In 5 years, three different effective therapies have arrived, which can be done starting from the first weeks of life, radically changing the history of the disease. In Italy only Lazio, Tuscany and Puglia have permanently introduced it in the regional panel; Liguria, pending the national update, has started an experimental project and soon Piedmont and Campania will do the same. “These are Regions that are different from a numerical point of view and for economic conditions – underlined Anita Pallara, president of Sma Families – yet they all understood that it was a matter of life or death and that it is feasible: if 6 Regions do it all the others can do it too. The paths are already clear and there is nothing to wait for, so much so that the ministerial working group has given a favorable opinion: only the updating decree by the Ministry of Health and we hope that it will arrive very soon. “A similar situation is that of type I mucopolysaccharidosis (Mps I), a very serious lysosomal storage disease. Veneto, Trentino and Friuli Venezia Giulia have been doing this screening for some time and have published the data relating to the results of this examination. “In 5 years – explained Alberto Burlina, director of the Uoc Hereditary Metabolic Diseases University Hospital of Padua – we screened a total of 160,011 newborns for Mps I. We found two affected patients, both with a serious disease: the The first had a bone marrow transplant at 6 months of life, the second started enzyme replacement therapy, and today they are both perfectly healthy. Without screening, they would have been diagnosed after years and with disabling results “. Similar is the situation for three other lysosomal diseases, more common than Mps I: Gaucher disease, Fabry disease and Pompe disease. For these pathologies there are long-term screening experiences carried out in Italy: in Tuscany since 2014 the diseases of Fabry, Pompe and Mps I have been researched, while in 80% of Triveneto (Friuli Venezia Giulia, the Province of Trento and the provinces of Padua, Venice, Treviso and Belluno) since 2015, in addition to these pathologies, Gaucher’s disease is also being sought. To date, both Mps I and Pompe and Fabry diseases are included in the American panel, the ‘Rusp’, currently the most advanced in the world, which also allows for the collection of data on very large populations. Among the diseases that should be included in the first possible update – it emerged from the webinar – there are also congenital immunodeficiencies, a group of different but still very serious diseases, which cause recurrent, debilitating and can be fatal infections. They are divided into two groups: the Scid or severe combined immunodeficiencies (therefore Ada Scid and Pnp Scid) and the other immunodeficiencies detectable with Trec / Krek type tests. In Tuscany, screening began with Ada Scid and then, by changing the type of test used, it was extended to all forms. In the wake of this positive experience, in 2019 the University Hospital of Padua also began to do so. More recently, still waiting for a decision to be made on a national level, Liguria (Gaslini hospital) and the Palermo screening center have also begun to take the test: both in Padua and Palermo a positive child has already been found, and now these two children can be treated. Finally, the adrenogenital syndrome, also known as congenital hyperplasia of the adrenal gland, a hereditary disease in which an enzyme deficiency affects the production of cortisol and other hormones. The disease can be fatal due to acute adrenal insufficiency, with vomiting, diarrhea, hypoglycemia, hypovolaemia, and shock. With a timely diagnosis this can be avoided, and it would be possible thanks to a test that can be performed with machines commonly found in screening laboratories and the possibility of effectively intervening through steroid hormones.