After a delay in launching due to the COVID-19 pandemic, the Hospital Universitari i Politècnic La Fe de Valencia will launch a pilot neonatal screening program to detect spinal muscular atrophy (SMA) in all babies born in the Valencian Community, about 40,000 each year, both in public and private hospitals.
This first SMA NBS pilot in Spain will begin screening in March 2021 and is being led by Dr. Inmaculada Pitarch and Dr. José María Millán. They expect to detect about four to five cases of SMA per year.
For her part, Dr. Pitarch stated that although it may seem there are few cases of SMA, “We believe that, of those four cases, at least two are of the most severe type of the disease. These children, until recently, died before the age of two and the other two would not be able to walk. Therefore, the benefits of screening are extraordinary. We are simply talking about saving lives.“
Dr. José María Millán, head of the Molecular, Cellular and Genomic Biomedicine group at the La Fe Health Research Institute, highlighted that, despite its proven benefits, “neonatal screening for this pathology is still a pending issue in Spain, but it is already a reality in countries such as the United States, Australia, Taiwan, Germany or Belgium, where, after its implementation, excellent results have been achieved in terms of diagnosis, treatment and prognosis of this disease.”
Note: The final two paragraphs of this blog were translated in to English from the original Spanish in the above sources