The Longitudinal Pediatric Data Resource (LPDR) is a secure informatics system designed to enable enhanced data collection, sharing, management and analysis for conditions identified as part of newborn screening or for conditions that may benefit from newborn screening. The NBSTRN team worked with subject matter experts, the Joint Committee*, our Clinical Centers Workgroup, grantees and the National Library of Medicine (NLM) in a national consensus-based process to identify standards-based, disease-specific datasets that would be useful in both clinical care and research efforts. These datasets were then integrated into a set of data capture, data management, and data almanac tools that leverage the Research Electronic Data Capture (REDCap) system. The web-based system allows clinicians to access electronic case report forms (CRFs) and download updated paper CRFs for the disorders with role-based access. Data is collected as part of a standard clinic visit and entered into a centralized or institutionally-enabled REDCap instance for aggregation, management and analysis, with a future goal of electronic data entry at the time of the clinic visit. Disease specific electronic CRFs incorporate a uniform consensus dataset as well as disease-specific datasets. To date, 45 individual metabolic conditions, one neuromuscular disorder, and four lysosomal storage disorders have been entered into the LPDR. A series of data elements encompassing demographics, socioeconomic factors, natural history, genetics, disease symptoms, disease progression, and treatment protocols are included and linked to definitions and national standards through an accompanying data almanac. This resource will be made available to the newborn screening research community, where it is expected to accelerate the development of new technologies and treatments, methodological, outcomes, and public health research of newborn screening. Currently 1300 cases of inborn errors of metabolism are included in the inaugural LPDR. The development of a consensus data set for the long-term follow-up of newborns facilitates the translation of new discoveries into clinical practice to improve health outcomes and further scientific understanding. The use of this approach in pilot studies serves a model for future initiatives as genomic technologies begin to be applied to disease screening and management across the lifespan.
The LPDR allows researchers to register for two levels, granting access to the tools below.
REDCap Data Dictionary — The REDCap data dictionary is a csv file that is used to create a project. This file can be downloaded from the Data Almanac and uploaded into any REDCap instance for use.
Data Almanac — The Data Almanac is an electronic metadata resource designed to capture important information about the data elements. The Data Almanac contains a semantic definition of the data element, a list of acceptable answer choices, conditions to which the element is applicable, when the question is visible, attributes, form information, associated standardized codes, and sources for all information displayed. It is available as an overview page for all elements and at the point of data entry for individual elements.
Case Report (Printable PDF Form) — A Case Report Form (CRF) is a paper that is used in clinical research to collect information. The LPDR Case Report Forms are organized into intake and visit categories and include family history, newborn screening results, and management and treatment.
See example here: Case Report PDF
Electronic Case Report (Online Data Entry) — The electronic case report forms enable online data entry with the REDCap project.
Customizable User Guide Template — A general user guide available for users to customize for team and individual trainings.
Harvest — A tool for integrating, discovering, and reporting data collected within the LPDR including Genomic information, clinical findings and laboratory results.
Varify — A tool to explore and query complex sequence data at the variant, genome annotation, subject, cohort, and phenotype levels within the LPDR.
*Joint Committee: The NCC/RC LTFU Data Workgroup and the NBSTRN Clinical Centers Workgroup