Disease Natural History Database Development

National Organization For Rare Disorders, Quincy MA

Investigators

Abstract

Project Summary Objectives NORD seeks to enable the collection of disease natural history information to accelerate research across all rare diseases. As part of this project NORD expects to achieve the following objectives. 1. Design, develop and deploy 20 natural history studies for rare diseases with unmet medical need 2. Expand the functional capability of the current platform to include additional features and enhanced analytics 3. Develop data models that support the common and unique requirements of each study 4. Develop standard templates, tools and guidance used to implement each study and future studies Methods Working with rare disease patient groups, NORD will develop a natural history study for 20 rare diseases along with a core data set and nomenclature that will be useful across specific rare disease organizations and research groups. The data elements will be those directly related to the health, wellbeing, and quality of life of people with rare diseases and the studies will be designed with a goal to support drug development programs. Since there are more candidates than the 20 slots available, NORD will implement a lottery system that will allow each eligible patient organization a fair chance at the opportunity to launch a natural history study on the NORD platform. Each patient organization will serve as the study sponsor and will be responsible for obtaining IRB approval for the study. NORD will lead the efforts to determine the core common data elements for these 20 studies and to design the database structure in collaboration with NORD?s advisory board and representatives from participating rare disease groups. The cloud-based system will be hosted by NORD guaranteeing legacy maintenance and the common database structure will ensure compatibility where applicable. During the term of this project NORD will develop best-practice templates and tools to be used in the launch of the studies. This will include implementation guides, governance plans, research protocols, consent agreements, and IRB and HIPAA policies.