Global Healthcare on the Ground: NIH Aims to Help Treat 200 Rare Diseases - Pharmaceutical Technology

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Global Healthcare on the Ground: NIH Aims to Help Treat 200 Rare Diseases
NIH leads new international consortium to develop a diagnostic tool for most known rare diseases by the year 2020.

Pharmaceutical Technology
Volume 35, Issue 8, pp. 22

Common data elements can also provide a framework for patient registries to be developed and, looking ahead, says Groft, scientists may be able to use that information for natural-history studies and to develop biomarkers for clinical trials. "We should be able to do the same thing for rare diseases that is being done for cancers and for HIV/AIDS products," he says. Public communication and distribution of the information are also part of the plan.

The consortium plans to build on already existing models for some rare diseases that have received more attention than others over the years, such as certain muscular dystrophy conditions and cystic fibrosis. "These discovery and development efforts have taken a global approach, and we can use those as examples and build on those successes," says Groft. For example, the consortium would like to have the same analytical tools available on all project-relevant clinical-trial sites and the services of a data-coordination center.

NIH is also working with FDA to create a national policy for rare-disease research and related drug regulation. FDA boosted its own rare-disease efforts this past year with a newly created position in the Center for Drug Evaluation and Research, an Associate Director for Rare Diseases, and the launch of a free searchable database that lists approved compounds and products that may help researchers in their search for treatments for rare diseases. "Overall, this is an opportunity to facilitate partnerships," says Groft. "We've been talking about rare diseases for years. Individuals have been developing many of these pieces, and now is the appropriate time to put all those pieces together. The result should be a larger number of products available for the rare-disease community."

For more information, contact NIH's Dr. Groft (
) or the EC's Catherine Berens (
). To listen to a podcast interview about NIH's global health efforts with Director Francis S. Collins, visit


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