Supporting the development of a newborn screen to identify NPC children at birth
The development of a newborn screening program for Niemann-Pick Type C (NPC) disease holds profound significance in the realm of early intervention and improved patient outcomes. A newborn screening test for NPC could revolutionize the landscape of disease management by enabling the identification of affected infants shortly after birth. Early diagnosis allows for the prompt initiation of therapeutic interventions, potentially before the onset of irreversible symptoms. Timely treatment can mitigate the progression of the disease, offering affected individuals a better quality of life and a higher likelihood of positive therapeutic responses. Furthermore, newborn screening not only enhances the prospects of individual patients but also contributes to a better understanding of the disease’s natural history, facilitating ongoing research and the development of targeted therapies. In essence, the establishment of a newborn screening program for NPC represents a crucial stride towards proactive healthcare, providing a window of opportunity to intervene early and potentially alter the course of this debilitating disorder.
The Parseghian Fund supported Dan Ory's lab which developed a technique to screen for newborn children born with NPC disease. Today the APMRF supports ScreenPlus which is a collaboration of foundations, NPC families, industry partners, and clinicians working with Screen Plus to test 150,000 live births throughout the state of New York. The Parseghian Fund has committed $500,000 to this endeavor and, once approved, the screen will eliminate the pain NPC families go through to get a diagnosis, allowing life-saving therapies to begin at birth.
As of today, 14,095 babies were enrolled in the screening program and there are currently 8 hospitals participating.