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Patient registries are databases where patient information, including medical
information and family history, is collected and stored in a standardized and
secure way. Most often the aggregated data is used for medical research,
epidemiologic or other research studies. Registries can be used to recruit
patients for clinical trials to learn about a particular disease or condition;
to develop therapeutics or to learn about population behavior patterns and
their association with disease development; developing research hypotheses; or
for improving and monitoring the quality of health care.
Global Rare Diseases (Patient) Registry and Data Repository (GRDR)
The Office of Rare Diseases Research (ORDR) held the
Advancing Rare Disease Research: The Intersection of Patient Registries,
Biospecimen Repositories, and Clinical Data workshop in January, 2010
to discuss the concept and the development of an internet-based, federated rare
disease registry. Following the workshop, ORDR launched the
Global Rare Diseases Patient Registry and Data Repository (GRDR) to
collect de-identified patient information from rare disease patient registries
and to assist patient groups with no registry to establish their disease
registries.
A Request for Information (RFI)
was released on February 10, 2012 requesting information from patient groups
about their interest in participating in a GRDR pilot project.
Common Data Elements (CDEs)
Use of common data elements
(CDEs) facilitates the standardization of data entry and allows for
harmonization, sharing, and exchange of information across registries and
diseases, and facilitates various analyses and studies of specific rare
diseases. ORDR established a CDE committee to develop a set of minimal CDEs for
patient data entry to be used in any rare disease registry. These CDEs will
facilitate the use and analysis of aggregated data in a meaningful way. Future
steps will include the development of CDEs for organ system involvement in rare
diseases and rare disease-specific CDEs to facilitate data entry/reporting by
clinicians, other health care professionals, and researchers. All future
recommended CDEs will be established in collaboration with the various NIH
Institutes and Centers and other professional and patient organizations that
have already developed related CDEs or are in the process of developing them.
Informed Consent
One of the challenges in obtaining patient consent, including participating in
a patient registry, is ensuring that participants receive all the information
and background material necessary to make a fully informed decision and
understand what they are agreeing to. The signing of the consent helps protect
and inform participants and investigators about how participants’ data and
samples may be used. In December, 2010, ORDR sponsored the
Informed Consent Models/Templates for Rare Disease Registries linked to
Biorepositories meeting. Based on input from this meeting, ORDR
has published recommendations for patient consent when participating in
registries that are associated with biorepositories. In addition, to
assist the rare disease community, the ORDR has developed a template for an
informed consent form for participating in a patient registry. This template
can be modified according to the specific needs of each registry.
Rare Diseases Human Biorepositories/Biospecimen ( RD-HUB)
Biospecimens are an essential resource for studying the pathogenesis of disease
and for other biomedical research. ORDR encourages patient registries to
have biospecimens collected that can be linked to the patient medical
information (using a Voluntary Unique Patient Identifier) and to list those
collections in the RD-HUB.The
RD-HUB is a searchable database indicating the availability of biospecimens for
research to facilitate collaboration around the globe.
Publications and documents
Publications and documents related
to all the above topics can be found on the GRDR website.
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