The National Institutes of Health (NIH) in the US has awarded just over US$117 million in total over five years to 19 research consortia and a data management coordinating centre under the second phase of the Rare Diseases Clinical Research Network (RDCRN) launched by the NIH in 2003.

The NIH’s Office of Rare Diseases Research (ORDR) and seven NIH Institutes, including the National Institute of Neurological Disorders and Stroke, the National Institute of Allergy and Infectious Diseases, and the National Heart, Blood and Lung Institute, will provide the funds for the latest phase of the RDCRN, along with scientific insight and administrative support.

The new money will go towards research exploring the natural history, epidemiology, diagnosis and treatment of more than 95 rare diseases – defined as a disease or condition affecting fewer than 200,000 people in the US. Some 6,500 such disorders have been identified, affecting an estimated 25 million Americans in total.

As the NIH pointed out, the RDCRN was the first US programme to create a specialised infrastructure for research into rare diseases as a group. Previously the NIH’s institutes and centres funded research on individual rare diseases within their respective disease- or organ-related domains.

The RDCRN has enrolled more than 5,000 patients for 37 clinical studies on rare diseases since it was set up. The network was designed to address the fundamental challenge of patient recruitment in this field – typically there are few affected patients for any one rare disease – by fostering collaboration and shared access to geographically distributed research resources among interested scientists.

Collaboration is also encouraged between investigators and patient advocacy groups, which are included in the membership and activities of each research consortium in the network. Also involved in network-level discussions and meetings is the Coalition of Patient Advocacy Groups (CPAG), which represents the views and interests of all patient advocacy groups associated with the RDCRN.

The data management elements of the network’s second phase will be handled by the Data Management Coordinating Center (DMCC), based at the University of South Florida and previously known as the Data and Technology Coordinating Center.

The DMCC will develop uniform investigative clinical research protocols for data collection in collaboration with the RDCRN Steering Committee, monitor protocol adherence, data collection and data submission, and work with each consortium’s Data and Safety Monitoring Boards to establish protocols for adverse event notification and reporting.

In its former incarnation, the University of South Florida centre contributed to the RDCRN by, among other things, developing a management system for the collection, storage and analysis of network data, creating the RDCRN’s central public website and establishing a voluntary patient registry involving some 5,000 individuals from over 60 countries representing 42 rare diseases.