The GRDR aggregates patient data from existing and new rare disease registries into a global repository to facilitate research. It assigns each patient a unique ID and maps data to common elements. Registries provide de-identified data to the repository, which researchers can access for studies. 31 organizations are participating, including 15 with existing registries and 16 developing new ones. The goal is to accelerate rare disease research by enabling multi-disease recruitment and data sharing.

1. Global Rare Diseases Patient
Registry and Data Repository
GRDR
http://www.GRDR.info

2. Rare Diseases have no borders! They don’t affect individuals,
they affect entire families
GRDR
7. Registry owners
notify identified
participants.
Interested patients
Patient Registries
are directed to the
1. Patients Provide study contact
health information New Existing
and test results Registries Registries
6. Researchers can
identify potential
2. A Global Unique study participants and
Patient ID (GUID) is submit a contact
assigned and patient request to the original
Repository
data is mapped to Assign Of Aggregated
registry owner
common data GUID
Di-identified
elements (CDE’s) Data 5. De-identified
registry data is
3. Patient data linked available to
4. GRDR aggregates de- researchers for
to biospecimens via identified patient clinical
RD-HUB studies and clinical
the GUID interfacing information and specimen
Biospecimens trials
with RD-HUB data

3. Value of Patient Registry
 Identifies and locates various patients population for biomedical studies
including clinical studies, natural history of any disease or any other
type of studies
 Collects and provides important information on patients
 Collects data in standardized manner to evaluate specified outcomes for
a population with a specific disease
 Collects data for specific or multi purposes
 Enables follow-up on individual patients and patient populations
 Facilitates drugs development and therapeutics development
 Monitors response to drugs and drug safety
 Promotes improved diagnosis and clinical care
 Measures quality of life and quality of patients 'care
 Communicates with individual patient
 Connects families to the research opportunities
 Provides community support for families

4. Value of GRDR
 Integrating patient-reported and clinical information from multiple
sources, including existing and newly developed registries,
biorepositories, electronic health records, and other databases, into a
single data repository.
 Advancing the health of patients with rare diseases by stimulating new
research on the causes, treatments, and consequences of their disorders.
 Using an open-science model for distribution of GRDR resources
 Enhancing creative data mining within and across disorders.
 Leading new scientific insights into rare diseases.
 Accelerating knowledge discovery and ultimately the health of patients
with rare diseases.

5. :
GRDR Uniqueness:
 GRDR-is patient oriented project and provides a patient-centered solution
 Patient-Centeredness: The GRDR is an effort to create patient-centered registries — data
in the registry is meaningful to patients and reported by patients.
 GRDR Item Library: The GRDR uses Common Data Elements (CDEs) and a
standardized item library that expresses clinical concepts in terms that patients can
understand and respond to. These item concepts are linked to existing terminologies.
 GRDR Aggregated Data: De-identified patient data are from multiple sources is
aggregated into large debase using CDEs and standardized Item library (disease related
and diseases specific questions).
 Multi-Rare Disorder Research: The GRDR enables patient recruitment and research
within and between diseases. Unlike stand alone registries that include data for a single
disease, the GRDR enables recruitment across diseases (e.g., for a medication that may be
useful for >1 rare disease) and research on the causes and consequences of multiple rare
diseases.
 Data Linkage: The GRDR is able to link registry data with biorepository and other rare
disease resources using the NDAR-GUID method for patient identification.

6. GRDR program current status
 Developed set of CDEs to be used by any patient registry & for
GRDR http://rarediseases.info.nih.gov/files/List_CDEs.pdf
 Developed a library of standardized medical questions for
patient reporting
 Developed a scalable, replicable process to quickly develop
rare disease registries
 Developed a standardized consenting and registration process
for patient self-report registries
 Developed the GRDR community website (www.grdr.info) to
disseminate patient registry best practices
 Identified multiple pharmaceutical for Possible Future Public-
Private Partnerships

7. GRDR Program Current Status
 Developed informed consent template for participation in patient
registries.
 Adopted the Global Unique Identifiers (GUID), developed for the
National Database for Autism Research (NDAR) to provide each
record with a unique patient identifier.
 31 organizations were selected based on the review score and
balanced to ensure representation across many diseases and
organization sizes.
 Among the participating groups: 15 organizations with existing
registries; 16 organizations with no registries.
 Established Searchable Database for Biorepositories-Biospecimens:
RD-HUB http://biospecimens.ordr.info.nih.gov/

8. Participating organizations with registries
 1. Al Azher University
 2. American Behcet's Disease Association
 3. Coalition for Usher Syndrome Research
 4. Foundation Fighting Blindness
 5. Hypoparathyroidism Association, Inc.
 6. Intracranial Hypertension Research Foundation
 7. Lymphatic Research Foundation
 8. Massachusetts General Hospital
 9. Nevus Outreach
 10. North American Malignant Hyperthermia Registry
 11. Pachyonychia Congenita Project
 12. RASopathies Network USA
 13. RTI INTERNATIONAL
 14. The SADS Foundation
 15. University of Rochester Medical Center

9. Selected organizations with no registry
 1. Cutaneous Lymphoma Foundation
 2. Foundation for Sarcoidosis Research
 3. PSC Partners Seeking a Cure
 4. STOP Foodborne Illness
 5. The NephCure Foundation
 6. VHL Family Alliance
 7. Barth Syndrome Foundation
 8. Cornelia de Lange Syndrome Foundation
 9. Fibrous Dysplasia Foundation
 10. Foundation for Prader-Willi Research
 11. International FOP Association
 12. International WAGR (Wilms' Tumor,)
 13. Lymphangiomatosis & Gorham's Disease Alliance
 14. PCD (Primary Ciliary Dyskinesia) Foundation
 15. Rare Tumor Committee, Children’s Oncology Group
 16. ARPKD/CHF Alliance

11. Contact:
Yaffa Rubinstein Ph.D
Office of Rare Diseases Research
National Center for Advancing Translational Sciences
Email: yaffa.rubinstein@nih.gov 301-402-4338,
Web: http://grdr.info