The Newborn Screening Connect patient registry (NBS Connect) is a web-based self-report patient registry curated by professionals. This resource is for those affected by certain disorders included in the newborn screening panel. The registry has been developed by national experts in the field of NBS disorders at the Department of Human Genetics at Emory University, and serves as a support network for parents, guardians and individuals with inborn errors of metabolism.
Extensive development of the registry is occurring via a phased approach which began with the launch of NBS-PKU Connect for Phenylketonuria (PKU). We have now concluded beta testing and we are launching the next phase with NBS-MSUD Connect for Maple Syrup Urine Disease (MSUD). We will continue expanding the registry to include other disorders in the NBS panel recommended by the American College of Medical Genetics (ACMG).
NBS Connect brings together patients, families, parent organizations, professionals, and industry in one forum. Professionals and industry are able to share clinical trial information with patients, professionals have access to de-identified patient survey data, patients and families are able to connect with one another and access useful tools such as recipes and educational resources.
We ask all adult patients and parents or guardians of individuals with PKU or MSUD, to visit the website at nbsconnect.org, to register and complete their participant profiles. Participants will have access to disorder specific education materials, information on the latest research and clinical trials, recipes, interactive health tracking systems, “Ask an Expert” tools and more. Patients who take advantage of the resources provided, become empowered to make more informed healthcare decisions.
This registry is an asset both for forming connections between consumers and for building a qualitative database for future research. Interest in this project continues to grow and is currently gaining an international presence.
A HRSA SUPPORTED PARTNERSHIP — GRANT #H46MC24090