The GRDR project is a follow-up to the January 2010 ORDR workshop, “Advancing Rare Disease Research: the Intersection of Patient Registries, Biospecimen Repositories, and Clinical Data.”http://rarediseases.info.nih.gov/PATIENT_REGISTRIES_WORKSHOP/ The meeting agenda and presentation are available at: http://rarediseases.info.nih.gov/files/Patient_Registries_Workshop_Materials_JAN2010.pdf

For rare diseases, although any given condition is rare and there might be few patients with each disease, their cumulative public health burden is significant, with great unmet medical needs collectively. Because rare diseases are so uncommon, no single institution, and in many cases no single country, has sufficient numbers of patients to conduct clinical trials and translational research studies. Geographic dispersion of patients has been a major impediment to patient recruitment into clinical trials.

Best estimates are that fewer than 20% of rare diseases have patient registries. Most of these are operated by patients’ organizations or academic researchers. And although most registries are country-specific, there are a smaller number of international efforts. For registry developers and those responsible for providing oversight and maintenance, there is a need for an established forum for sharing experiences. Each time a new registry is developed, it is started from scratch using a different platform with no ability to “talk to” other registries, share data and exchange information. There is a consensus in the community of the need for an infrastructure for rare disease patient registries.

In recognition of both barriers and public health imperatives to advance knowledge regarding optimal methods of improving health and well-being of rare disease patients, the ORDR has embarked on an initiative to establish an infrastructure for an internet-based, federated global patient registry with the capability to link to patient clinical information to biospecimens. This global registry will develop or utilize existing common data elements, standards, and vocabularies that would provide a forum for exchange of data, experiences and knowledge. The future goal is to create a partnership with different sectors of the community including advocacy, research and industry organizations. This joint effort will reduce the costs of developing and maintaining an international registry for many of the rare disease patient advocacy groups.

A federated model requires that individual registries are developed, and those already in existence are enhanced to ensure that they are interoperable—i.e., data are defined in the same way, use the same standards, and use the same vocabularies. Similar to the open-source software community, ORDR believes that an open-science community for rare diseases is needed. Such a community would ensure that the conditions necessary for data exchange are addressed by defining common data-sets, data standards, and vocabularies, and would provide a forum for exchange of experiences and knowledge. The goal is to increase data compatibility, broaden accessibility and collect patient data and biospecimen information to accelerate the development of therapeutics, drugs and, hopefully, cures for the rare diseases.

This global rare disease registry infrastructure will draw new interest in rare diseases from academic researchers and the pharmaceutical industry because it will assist in the recruitment of patient participants much faster, at much lower cost, and enable the design of more effective clinical trials. Going forward, ORDR expects the GRDR to sustain itself as a public-private partnership.

To be able to link patient clinical data generated by different investigators at different location and also to link clinical date, the patient, and their biospecimen, the Global Unique Identifiers (GUID) program (http://jamia.bmjjournals.com/content/17/6/689.full.pdf) developed by the National Database for Autism Research (NDAR) will be used to assign unique patient identifiers. This will help eliminate duplication and enable integration with tissue repositories in a de-identified manner.

The linking to biospecimen will be able to interface with the patient registry-associated biorepositories and with the Rare Disease Human Biospecimens/Repositories (RD-HUB) http://biospecimens.ordr.info.nih.gov/

Further information

The following resources and publications may be of interest to those developing or managing patient registries and bio-repositories.

Patient registry for the overlooked patient
Contemporary Clinical Trials. 2010 Sept;31 (5):393.

Letter to the editor - Contemporary Clinical Trials
Contemporary Clinical Trials. 2010 Sep:3 (5):393

Creating a Global Rare Disease (Patient)t Registry Linked to a Rare Diseases Biorepository Database: Rare Disease-HUB (RD-HUB)
Contemporary Clinical Trials. 2010 Sep;31 (5):394-404.

The case for a global rare diseases registry
Lancet 2010 Aug. 2 193: 5-7