Firefly Fund’s NPC Newborn Screening Initiative had the opportunity to deliver a presentation at this year’s NNPDF Family conference, updating participants on the latest activities with this important community activity. We focused on two research initiatives: 1) the ScreenPlus pilot newborn screening study is making final preparations to launch in the state of New York, amidst the COVID-19 pandemic; and 2) the NPC Sibling Study, being conducted in collaboration with a research entity called RDMD, to compare health outcomes of NPC-affected siblings based on timing of initiation of treatment. You can check out the presentation here.
The Initiative also hosted its third quarter Working Group call in July. We welcomed researchers from RDMD to discuss the sibling study in greater detail. They outlined the development of recruitment materials that are in the final stages of preparation. As soon as these are ready to go, Firefly and other Working Group participants like NNPDF will be sharing these with the NPC community so we can encourage families to participate. The research – with a study protocol being developed by leading NPC clinicians Drs. Elizabeth Berry-Kravis, Marc Patterson, and Denny Porter – will go a long way to helping the NPC community to demonstrate the impact and importance of intervening earlier in disease progression to improve health outcomes for people affected with NPC.