This is the first time this has happened thanks to newborn screening
Genoa – Neonatal screening offered by the Gaslini hospital in Genoa to newborns for the timely and simultaneous diagnosis of two serious rare diseases, spinal muscular atrophy (Sma) and severe combined immunodeficiency (SCID), has made it possible to identify and treat a child suffering from Sma, an inherited disease of the nerve cells of the spinal cord, also known as “rag doll” syndrome due to weakening of the muscular system. It is the first time that this happens thanks to the newborn screening. It happened on an 11-day-old Genoese child. The baby, treated at a few days of life with gene therapy, has a very good chance of developing modest or very mild symptoms compared to children who are diagnosed months or years after birth.
“The initiation of treatment in the very first weeks of life, stem cell transplantation for Scid and gene therapy for SMA, allows to maximize the results of the therapy by significantly improving the quality of life of sick newborns”, emphasizes the director of the ‘Gaslini Mohamad Maghnie Pediatric and Endocrinology Clinical Unit. Until the 1990s, SMA was incurable. The newborn screening program started on 4 September 2021 in collaboration with the 11 birth centers in Liguria, 4,138 newborns were screened. Only one case of SMA has been identified. The percentage of dissent at screening is very low: 0.12% or 5 families.
“The significant milestone reached by the Gaslini Institute testifies once again to the value and excellence of its professionals. It is also an important confirmation that Italy represents the European country with the most advanced neonatal screening policy”, said the Undersecretary of Health Andrea Costa on a visit to the pediatric hospital in Genoa, congratulating the researchers of the Institute, they identified and treated the first case of spinal muscular atrophy well in advance. “Extended newborn screening is considered, in fact, one of the most effective toolsfor the early diagnosis of rare congenital diseases. – Costa remarks – The test is an expression of the right to health for all newborns. Also for this reason, since 2016 it has been included in the essential levels of assistance (Lea). Neonatal screening is therefore an investment for life: the task of the ministry and politics is to continue in this direction, investing more and more in research, training and assistance “.
The Ministry of Health is working to include expensive drugs against spinal muscular atrophy (SMA) in the essential levels of care. The first drug initially cost 100,000 euros per bottle, now the price has dropped to 40,000 euros. A new drug against SMA marketed from February 7, 2022 costs 400,000 euros per year. The current cost of anti-SMA gene therapy is 1.5 million euros, so much that healthcare companies offer leases linked to the progress of the therapy.
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