Rare diseases, Noja (M5S): “Regions use newborn screening funds well”

“As a parliamentarian I would like to take on the task of ensuring that the funds earmarked for newborn screening are used in a timely, targeted and efficient manner by the Regions. But all the Regions must use the resources, which already exist, in the same way. We cannot think that depending on where a child is, he or she will be able to access rapid and universal newborn screening “. This was stated by the parliamentarian Luisa Noja, of the Social Affairs Commission of the Chamber, speaking at the conference “Extended neonatal screening. 2006 – 2021, 5 years of progress. Challenges and prospects for the future ”, organized by the Rare Diseases Observatory, with the non-conditioning contribution of Biogen, Chiesi Global Rare Diseases, Novartis, Orchard Therapeutics, PTC Therapeutics, Roche, Sanofi Genzyme and Takeda. “Having overcome the obstacle of the vote to elect the new President of the Republic, for which parliamentary work is at a standstill – added Noja – I would like to return to office immediately afterwards with a parliamentary question because we have had confirmation that the SMA has entered the list of rare diseases, the so-called ‘panel’. The work of the group on extended neonatal screening, wanted by the Ministry of Health, however, had to continue, also because the entry in the list does not make it automatic that in the Regions it proceeds, given that the table also has the task of drafting the protocols which then serve to give uniformity throughout the national territory. So, the questions we would ask the ministry will be: where are we with the second part of the work of the table and how are we proceeding with the other pathologies? “. “I believe” – ​​concludes Noja – that it is necessary “to arrive at a fluid mechanism, always based on scientific evidence and solid data. Science must be given its time but we must also eliminate all those slowdowns linked to bureaucracy. Science for the sake of children and young patients must indeed have solid evidence but I believe it is intolerable that there is a delay linked to cumbersome and unnecessarily long procedures “.