As the world healthcare community struggles with how to contain an Ebola outbreak in Africa, the National Institutes of Health is quietly putting in place a web-based central data repository to support and accelerate research in the cause, diagnosis, and treatment of rare diseases globally.

With an estimated 300 million individuals worldwide affected by one of more than 7,000 known rare diseases, the goal is to improve drug and therapeutics development and the quality of life for those suffering from the diseases by providing researchers with the infrastructure to store, search, retrieve and analyze critical datasets. Though the data is not yet available, NIH is working towards a May 2015 launch of the repository’s public website.

Started as a pilot project that ended in September 2013, NIH’s Global Rare Diseases Patient Registry Data Repository (GRDR) program is designed to aggregate standardized, coded and de-identified patient information and clinical data to make it available to scientific investigators to conduct new biomedical studies including clinical trials. Housed at the NIH National Center for Advancing Translational Sciences (NCATS), the GRDR program collects into a single centralized resource a wide range of data types, including phenotypic, clinical, and genomic, as well as medical images, derived from individuals who participate in rare disease patient registries.

Out of the approximately 7,000 rare diseases globally, only a small portion of them have patient registries. The two-year pilot project included 12 patient advocacy group registries. Currently, the GRDR program--led by staff in NCATS’ Office of Rare Diseases Research--includes about 50 diseases, including 3,800 patients in 90 countries. Data is collected by registry owners, which in most cases are rare disease advocacy groups or academic-based scientific teams.

"Patient registries represent one of the best resources to collect prevalence, demographic, natural history, and comparative effectiveness data on rare diseases," says Marshall Summar, M.D., chief of genetics and metabolism and a professor of pediatrics at Children’s National Medical Center in Washington, D.C.

As the GRDR program ramps up for the May 2015 launch of its web-based repository, registry data shared for the program will be standardized to common formats and terms so that the registries are interoperable with one another and with other national databases. Mapping the data is the most difficult and challenging step in ensuring that the data is integrated in a uniform manner, say program officials.

“A goal of the GRDR is to harmonize the way that patient registries collect the data so they can talk to each other and share data,” says Yaffa Rubinstein, Ph.D., director of Patient Resources for Clinical and Translational Research in NCATS’ Office of Rare Diseases Research. Data is collected and aggregated from rare disease registries in a standardized manner, linking the registry data to Common Data Elements (CDEs) using nationally accepted standards and standard terminologies.

Ebola is not currently included in the program’s repository of patient registry data. “It’s not in the immediate plan but I can see that years from now it can be included as well,” adds Rubinstein.

“I think in studying rare diseases you can also find out a lot about diseases that are more common,” says Cindy McConnell, communications director at NCATS. “Part of the goal of this program is to have the data feed into the commonality and apply it to common diseases as well.”


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