Global Rare Diseases Patient Registry & Data Repository


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Global Rare Diseases Patient Registry & Data Repository

  1. 1. Global Rare Diseases PatientRegistry and Data Repository GRDR
  2. 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 the1. Patients Provide study contacthealth information New Existingand test results Registries Registries 6. Researchers can identify potential2. A Global Unique study participants andPatient ID (GUID) is submit a contactassigned and patient request to the original Repositorydata is mapped to Assign Of Aggregated registry ownercommon data GUID Di-identifiedelements (CDE’s) Data 5. De-identified registry data is3. Patient data linked available to 4. GRDR aggregates de- researchers forto biospecimens via identified patient clinical RD-HUB studies and clinicalthe GUID interfacing information and specimen Biospecimens trialswith RD-HUB data
  3. 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. 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. 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. 6. GRDR program current status Developed set of CDEs to be used by any patient registry & for GRDR 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 ( to disseminate patient registry best practices Identified multiple pharmaceutical for Possible Future Public- Private Partnerships
  7. 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
  8. 8. Participating organizations with registries 1. Al Azher University 2. American Behcets 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. 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 & Gorhams Disease Alliance 14. PCD (Primary Ciliary Dyskinesia) Foundation 15. Rare Tumor Committee, Children’s Oncology Group 16. ARPKD/CHF Alliance
  10. 10. Contact: Yaffa Rubinstein Ph.D Office of Rare Diseases ResearchNational Center for Advancing Translational Sciences Email: 301-402-4338, Web: