Supplement to Clinical, Genetic, and Cellular Consequences of Mutations in Na,K-ATPase ATP1A3

State University Of New York At Buffalo, Buffalo NY

Investigators

Linked publications & trials

Abstract

The ongoing NIH/NINDS-funded study of ‘Clinical, Genetic, and Cellular Consequences of Mutations in Na, K-ATP1A3’, which is in its 14th year, has generated significant knowledge and corresponding hypothesis for clinical advances. While a major strength of this study is the extensive follow-up data from 2008 on, the associated complexities of collecting data over multiple funding cycles also leads to challenges and logistic hurdles including use of a now outdated custom-built electronic data capture system and inconsistent clinical research forms and associated data dictionaries over multiple cycles of the parent grant. The broad objective of the proposed Administrative Supplement is to address those challenges by restructuring the data to produce optimally efficient analytical data sets which can subsequently advance scientific discovery. This broad objective will be accomplished through the following Specific Aims: 1) Comprehensively examine and restructure the current electronic data capture system and associated databases to optimize utility of the ongoing data 2) Create analytical datasets that will facilitate subsequent publications on 1) discovery of ATP1A3-related disease and their changes over time and 2) causative and risk factor evaluation of ATP1A3 mutations. Aim 1 will comprehensively examine the current data structure, recode variables to eliminate inconsistencies across the cycles of data, design and develop a new tabular database model in an Oracle SQL database, and migrate the previous data into this new tabular model. Aim 2 will create analytical datasets from the tabular model in R statistical software, with corresponding data dictionaries. These data will include long and wide format files and R markdown files using reproducible and transparent code for production of all publishable manuscript projects. To conduct the proposed data management and associated application development, the Supplement will provide funding for services from Research Information Systems (RIS) and the RIS has experienced programmers/analysts who assist UB investigators with all aspects of web-based systems development, application development and support, and providing other integrated information services. In summary, these aims will directly contribute to the first two Specific Aims of the parent grant through production of high-quality data over nearly two decades of data collection and will facilitate rigorous implementation of novel methods to optimize the scientific values of these significant data.