2023-10-13 07:38:19
by Maria Giovanna Faiella
The test at birth allows for the early diagnosis of the disease and the immediate start of the therapies available today, which allow children with SMA to have a normal life. A right only for children born in some regions. The Associations: extend it to everyone. Ministry of Health: Decree coming soon
Sitting in the high chair while controlling your head, standing, walking: gestures that are taken for granted for all children which, for a few years now, have no longer been a mirage for little ones who suffer from Spinal Muscular Atrophy (Sma), a rare genetic disease that mainly affects the nerve cells of the spinal cord from which direct signals to the muscles originate, progressively compromising the ability to walk and, in the most serious cases, to swallow and breathe.
Thanks to the progress of scientific research, in fact, treatments are now available that allow young patients to have a normal (or almost normal) life if they are administered immediately, before the symptoms of the disease appear. This is why timely diagnosis is essential, which is possible with neonatal screening. Currently, however, this possibility is only offered to children born in some regions. Hence the appeal to extend neonatal screening for SMA to all children born in Italy, addressed once again to the institutions by SMA families, doctors and OMaR – Rare Diseases Observatory during a meeting in Rome, during which the short film Have you ever seen a unicorn? (Who the trailer), followed by discussions between clinicians, patients and parliamentarians.
Parallel stories
Until 2017 there were no therapies for spinal muscular atrophy, today there are various options, including the genetic one, which intervenes directly on the genetic defect with a single administration. the therapy administered to the protagonists of the documentary, Antonio and Aurora (and 110 other children). The effectiveness of gene therapy, like others, depends above all on timeliness.
The director of the NeMo Pediatric Clinical Center of the Gemelli Polyclinic in Rome, Marika Pane, associate professor of Child Neuropsychiatry at the Catholic University, explains it with an example: Emily was diagnosed with SMA at birth, in March 2019, thanks to the pilot project of newborn screening for SMA started that year in Lazio and Tuscany, then she was given gene therapy; today she walks and runs like other children. If therapies are administered before the onset of symptoms, children are able to complete the same stages of motor development as their healthy peers – underlines Dr. Pane -. In that same period, a 5-month-old Sicilian child arrived at our Center with a diagnosis of SMA received late, given that the test at birth was not done in that Region; the little boy already had symptoms of the disease, such as problems holding his head. We treated him anyway with the available therapies, but he will not have the same results obtained by Emily. Regardless of the therapeutic approach, the data available today incontrovertibly indicates that the earlier treatments are intervened, the greater their effectiveness.
Further evidence of the value of newborn screening for SMA, which reduces delays in diagnosis and initiating treatment, comes from a recent study published in The Lancet – Child & Adolescent Health (we wrote here).
That test that saves your life
Extended, free and mandatory neonatal screening since 2016 throughout Italy for over 40 congenital metabolic diseases (identified by Ministerial decree of 13 October 2016 ed.), is done to all newborns by taking a few drops of blood from the heel in the first 72 hours of life: it allows for early identification of these pathologies and, if positive, to start the appropriate treatment immediately, thus avoiding small serious disabilities or even save their lives. But other serious diseases – including SMA – await to be included in the panel of pathologies to be tested with the ENS.
On the waiting list
The 2019 Budget Law (art.1 paragraph 544), which amended Law n.167/2016 Provisions regarding mandatory neonatal diagnostic tests for the prevention and treatment of hereditary metabolic diseaseshas established the updating at least every two years of the list of pathologies to be searched for through neonatal screening, in relation to the evolution over time of scientific evidence in the diagnostic-therapeutic field for hereditary genetic diseases and has extended neonatal screening – for now only ” on paper” – to pathologies for which treatments are currently available (detailed information on the Ministry of Health website, by clicking Who
). Among these, genetic neuromuscular diseases such as SMA are waiting to be included in the list of pathologies to be tested with the ENS; some lysosomal storage diseases such as type I mucopolysaccharidosis and Fabry, Gaucher and Pompe diseases; severe congenital immunodeficiencies such as SCID, X-linked adrenoleukodystrophy, metachromatic leukodystrophy.
In the meantime, some Regions, independently, have decided with their own measures to include Spinal Muscular Atrophy (and other congenital pathologies) in screening programs at regional level.
Ministry of Health: in the home stretch
But what is missing for newborn screening for SMA to truly be a right for all children born in Italy?
The Working Group on the NES – established in 2020 at the Ministry of Health has given a positive opinion on the inclusion of Spinal Muscular Atrophy in the list of pathologies to be looked for with the NES. However, the Decree updating the list is missing, which could not be issued until the so-called Tariff Decree was approved (establishes the tariffs to be paid to providers for the services of specialist outpatient and prosthetic care included in the LEAs in 2017, the essential levels of assistance to which all citizens are entitled, ed.), finally approved a few months ago after more than six years (read Who).
The last piece, therefore, is the ministerial decree which updates the list of pathologies to be tested with the ENS. The Ministry of Health, consulted by the Courier, informs that the Decree is nearing completion and is at the Cabinet Office for signature.
October 13, 2023 (modified October 13, 2023 | 07:37)
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