1. Global Rare Diseases Patient Registry Data Repository GRDR
Office of Rare Diseases Research (ORDR)
NIH Rare Disease Day
Feb. 27, 2013
Yaffa Rubinstein

2. Patient Registries are an essential tool and important resource

3. 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

4. Collecting Patient Data in a standardized manner

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

6. 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

7. 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

9. Linking to Biospecimens Data

10. Patient Registry template
ORDR Open-source
Patient Registry template

11. 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.

12. 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

13. ORDR Open-source Patient Registry Template

14. ORDR Open-source Patient Registry Template

15. ORDR Open-source Patient Registry Template

16. Access to the Open-source Patient Registry Template

17. 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