The Minister of Health, Orazio Schillaci, announced that spinal muscular atrophy (SMA) has been added to the list of rare diseases for which neonatal tests are required. This decision could potentially save the lives of many children who suffer from this degenerative disease.
The announcement was met with enthusiasm and relief by health officials and advocates for rare disease patients. Senator Raffaella Paita, national coordinator of Italia Viva, expressed her satisfaction with the decision, noting that timely diagnoses will now be possible for children born with SMA. Maria Elena Boschi and Lisa Noja, who also advocated for the extension of the screening tests, emphasized the importance of making this diagnostic and treatment right accessible to all children.
The mandatory newborn screening for rare diseases has been in place since 2016, but the inclusion of SMA is a significant step forward. Some regions, such as Lombardy, had already moved independently to include SMA in their screening programs, but the national extension will ensure that all children have access to these life-saving tests.
The director of the Rare Diseases Observatory (OMaR), Ilaria Ciancaleoni Bartoli, highlighted the importance of early diagnosis and treatment, noting that scientific advancements have improved both diagnostic tests and available therapies for rare diseases. The extension of the screening program to include SMA will allow early interventions and drastically improve the quality of life for affected children.
The process for conducting the screening tests is relatively simple, involving a blood sample from the newborn’s heel within the first 72 hours of life. The rapid results can lead to early interventions and tailored treatment plans based on the specific rare disease identified.
In addition to SMA, there are other rare diseases included in the mandatory screening, such as adrenogenital syndrome, mucopolysaccharidosis type I (MPS I), Fabry, Gaucher, Pompe, and congenital immunodeficiencies. Some regions have already taken the initiative to include some of these pathologies independently in their screening programs, with others planning to follow suit.
While the decision to include SMA in the neonatal screening is a positive step, there are still concerns about the allocation of funds for the screening process. However, advocates are hopeful that the necessary measures will be quickly implemented, ensuring that all newborns have access to these life-saving tests.