00:00Dr. Tummo, CIMESN has been dedicated for years to neonatal screening, which has been a true healthcare revolution.
00:06What are the needs of patients and clinicians today?
00:11We are witnessing a paradigm shift from the focus we have had on neonatal screening in recent decades,
00:17that is, on an early, timely, precise diagnosis of phenylketonuria, which has changed the natural history of this disease,
00:25to the attention we must pay to people affected by this disease as they become adults and become elderly.
00:33Unfortunately, we still do not have a national uniformity on the access path to treatments and the multiple therapeutic strategies of which
00:41nowadays we enjoy it
00:43and therefore the joint effort in which the association believes so much and supports patient associations
00:51is to standardize the national plan in the management of these pathologies, in the ad hoc transition for patients who
01:00they become adults and they become elderly.
