ROMA (ITALPRESS) – Sardinia has started the neonatal screening program for the Spinal Muscular Atrophy (SMA), which since 18 May is carried out free of charge to all Sardinian infants. A very important health opportunity for over 6,500 children born every year on the island, where the incidence of rare diseases, especially of genetic origin like this, is particularly high. The first blood samples have already been received at the Laboratory of Newborn Screening of the Microcythemic Pediatric Hospital “A. Cao” of Cagliari of ARNAS Brotzu.
“A few years ago, there were no therapies capable of modifying the course – explains Salvatore Savasta, director of the Regional Coordination Centre for Rare Diseases of Sardinia and the Pediatric Clinic and Rare Diseases of the University of Cagliari. Today innovative treatments can change the natural history of the disease. The possibility of early detection of affected infants, before symptoms appear, opens to therapeutic options until a few years ago unimaginable. The new therapies early undertaken today allow many children to reach the normal stages of motor development, in times comparable to those of the unloved peers.”.
“The Sardinia Region was among the first in Italy to deliberate and finance screening for this pathology with its own funds – adds Savasta. For this reason I would like to thank the Sardinia Region, the directors of birth centers who have collaborated, but also all the Associations of patients and the Rare Disease Observatory (OMaR) who have carefully accompanied the process that has led to this result. Now that this fundamental stage has been reached, the goal is to build a complete path of taking place here on the island and foresee the widening of screening to new pathologies, such as lisosomal diseases and immunodeficiencies.”.
“We express great satisfaction – they declare from the Association Families SMA – because finally today in Sardinia a child with Spinal Muscular Atrophy can be identified before the appearance of symptoms and taken immediately into charge. We will continue to work because around these families the maximum culture of the disease and the taking into account grows”.
Neonatal screening is a preventive medicine program that allows to detect certain diseases in the very first days of life, before symptoms appear. The test for the SMA is performed on the same blood sample already collected for the extended neonatal screening (the so-called “Guthrie Card”), taken from the heel of the newborn in the first 48-72 hours of life. The analysis is genetic and tests the presence or absence of the SMN1 gene. This is a quick examination, with a low cost, which offers an answer in a few hours.
“Molecular analysis of the locus SMA is the passage that allows to confirm the absence in double copy of the SMN1 gene, responsible for the pathology, and to verify the number of copies of the adjacent SMN2 gene: an information necessary to the clinical to predict the clinical severity of Spinal Muscular Atrophy and guide therapeutic decisions. – says Stefania Murru, head of the Laboratory of Genetics and Medical Genomics of the Microcythemic Hospital, deputy to the diagnostic confirmation -. This is a long-awaited step: we are ready to do our part.”.
“The launch of neonatal screening for Spinal Muscular Atrophy is an important result for Sardinian health and confirms the value of a regional network capable of focusing the Children’s Health from the first days of life – comments ARNAS General Manager G. Brotzu, Maurizio Marcias –. Today we can offer families a tool that allows early detection of a serious pathology and to intervene promptly with therapeutic paths that can radically change the prognosis of small patients. The Laboratory of Newborn Screening and the Laboratory of Medical Genetics and Genomics of our ARNAS Microcythemic Pediatric Hospital strengthen their regional role in early diagnosis and rare diseases: investing in prevention means offering children the best opportunities for care and future”.
– Photo IPA Agency –
(ITALPRESS).
