Rare diseases, 5 diseases under observation for admission to neonatal screening

by time news

Unlike the 7 rare diseases – Sma, Gaucher, Fabry, Pompe and Mps I, congenital immunodeficiencies and adrenogenital syndrome – which would have all the credentials to enter the extended newborn screening, the situation in which they find themselves is different. a group of other diseases, at least 5, which have some requirements, but not all of those required to be eligible. These are pathologies which, although they cannot aspire to be included in the panel today, must be kept “under observation” because they could in a short time come to have the characteristics that are missing for inclusion in the Italian panel. This is what emerged today during the conference ‘Extended neonatal screening. 2006-2021, 5 years of progress. Challenges and prospects for the future‘, organized by the Observatory for rare diseases.

These pathologies include alpha-mannosidosis, aromatic L-amino acid decarboxylase deficiency (Aadc deficiency), X-linked adrenoleukodystrophy (X-Ald), Duchenne’s dystrophy and metachromatic leukodystrophy.

L’alfa mannosidosi it is a lysosomal storage disease for which there is an effective early treatment, an enzyme replacement therapy approved also in Italy. Diagnosis is possible, but a test that can be used on a large scale is still lacking at the moment. However, research is making great strides on this front, as he explained at the conference Carlo Dionisi Vici, Head of Metabolic Pathology Unit, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital in Rome. “In the meantime – said Dionisi Vici – a test that can be easily performed on urine has been developed, a test that allows to highlight both this disease and other pathologies of the oligosaccharidosis group. Just in January it was published in the Orphanet Journal of Rare Disesases’ the study that proves its validity. The test can be performed only after the end of breastfeeding. In the meantime we are working on a test to be done in neonatal age using the technologies already available in the laboratories, and therefore also suitable for a newborn screening of all children “. When this test is also available, the disease could aspire to entry into the national panel.

The Aadc deficiency it is a very rare and serious genetic neurometabolic disease that affects the nervous system and the very serious effects occur from the first weeks of life. Early diagnosis is critical to management and will be even more so when gene therapy currently undergoing regulatory review in Europe becomes available. If therapy is just around the corner, the same can be said for the early diagnosis test. “Recently – he recalled Alberto Burlina, director of Uoc Hereditary metabolic diseases University hospital of Padua – we have taken a big step forward by developing a simple, quick and inexpensive method, already applicable by all the laboratories that already carry out this type of analysis: there is no need to buy other kits, reagents or use other analysis techniques “. discovery is very recent and the study that demonstrated its validity was published in ‘Molecular Genetics and Metabolism’ last May.

For theadrenoleucodistrofia legata all’X, a degenerative disease affecting the nervous system and some endocrine glands, things have changed a lot in the last year. On the one hand, gene therapy, which until last year seemed to be on the way, has suffered a setback, and this partially drops one of the requirements for screening. For some patients, however, the path to bone marrow transplantation may open up. The test, on the other hand, has existed for some time and the novelty is that from 1 September 2021 in Italy the first experimental neonatal screening project has started, which will involve children born in Lombardy thanks to a pilot program financed by the Ministry of Health through the call for research aimed at targeted research. and coordinated by Davide Tonduti, of the Uoc of Pediatric Neurology at the Buzzi Hospital in Milan, in collaboration with the Department of Pediatrics and the Uoc of Neonatal Screening and Metabolic Diseases.

For the Duchenne dystrophy to date there is no definitive cure, but various treatments, pharmacological and otherwise, which, if started early, can improve the quality of life. And there are several therapies under study that could lead to a breakthrough in the coming years. The test, on the other hand, is possible and is of a genetic type, like the one done for the SMA, and therefore reliable. The results of an experimental screening project conducted on more than 36,000 babies born in New York State were recently released. In 2 years, 4 children have had confirmation of the disease and a girl has been identified as a carrier and also for this reason the US is considering inclusion in the national panel. While waiting for screening to be possible, the recommendation remains to perform the CPK test, an absolutely economical analysis on a blood sample, on those children who show delays in the motor stages.

Finally, the leucodistrofia metacromatica. Even this serious, rare and progressive neurodegenerative disease has made important steps forward to be a candidate for newborn screening in Italy. A gene therapy developed, now awaiting marketing in Italy, has in fact been approved by Ema, and just a few days ago the efficacy and long-term safety data were published in ‘The Lancet’. “Now that we have the therapy – he pointed out Alessandro Aiuti, director of the Immunohematological Pediatrics Unit, San Raffaele Hospital in Milan, full professor of Pediatrics, Vita-Salute San Raffaele University of Milan, and head of the Pediatric Clinical Research Unit, Hsr-Tiget – it is essential to give all children the possibility of an early diagnosis in order to be able to treat them before the onset of symptoms and to be able to them a life similar to that of other children. If we arrive late, the damage done cannot be recovered “.

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