Global Rare Diseases Patient Registry Data Repository GRDR Office of Rare Diseases Research (ORDR) www.grdr.info NIH Rare Disease Day Feb. 27, 2013 Yaffa Rubinstein Yaffa.rubinstein@nih.gov

Patient Registries are an essential tool and important resource

Global Rare Diseases Patient Registry Data Repository GRDR of Aggregated De-identified Data Existing Registries 1. Patients provide health information & test results using common data elements (CDEs) 4. GRDR aggregates de-identified patient clinical information & biospecimen data 5. De-identified registry data available to researchers for biomedical studies & clinical trials 7. Registry owners notify identified participants. Interested participants are directed to study PI Patient Registries Assign GUID 2. A Global Unique Patient ID (GUID) is assigned; patient data mapped to CDEs 3. Patient data linked to biospecimens via the GUID interfacing with RD-HUB 6. Researchers identify potential study participants; submit contact request to original registry owner New Registries RD-HUB Biospecimens

Collecting Patient Data in a standardized manner

Common Data Elements http://www.grdr.info Identifiers Socio-Demographics Rare Disease Diagnosis Family History Birth & Reproductive History Medications & Dietary Supplements Utilization Research Participation

ORDR/GRDR Mapping Guide Registries with diverse need and interest Examples Medications Diagnoses Genetic Testing Devices Learn from respondents Develop Mapping strategy Use: Unified Medical Language System (UMLS) Mapping Guide

Integrating Electronic Health Record Common Data Elements Identifiers Socio-Demographics Rare Disease Diagnosis Family History Birth & Reproductive History Medications & Dietary Supplements Utilization Ascertain whether a hybrid between the EHR and the organization's registry can be used to populate the GRDR repository

http://cde.nih.gov

Linking to Biospecimens Data http://biospecimens.ordr.info.nih.gov/

Patient Registry template ORDR Open-source Patient Registry template

ORDR Open-source Patient Registry Template The Office of Rare Diseases Research (ORDR) at the National Center for Advancing Translational Sciences (NCATS) provides this Opensource Patient Registry Template toolkit as a service to the rare disease community as part of the Global Rare Diseases Patient Registry and Data Repository project. This opensource toolkit enables any organization to implement a patient registry, while using the ORDR/GRDR CDEs, in a manner that makes it easy to share de-identified registry data with the GRDR Data Repository.  

ORDR Open-source Patient Registry Template Ability to customize registry appearance, content and functionality Set up to collect data from individual patients using the ORDR/GRDR CDEs Ability to add additional CDEs for data collection Ability to generate charts of de-identified patient data Ability to export and transfer data into the ORDR/GRDR data repository

ORDR Open-source Patient Registry Template

ORDR Open-source Patient Registry Template

ORDR Open-source Patient Registry Template

Access to the Open-source Patient Registry Template

Office of Rare Diseases Research Dr. Steve Groft, Phar.D., Director Dr. P.J. Brook (NIAAA) Dr. Davis Eckstein Ms. Marita Eddy (Angel Flight) Dr. John Ferguson Dr. Rashmi Gopal-Srivastava Mr. Chris Griffin Ms. Henrietta Hyatt-Knorr Ms. Susan Orr Dr. Yaffa Rubinstein