The $117-million award will go to the data coordinating center at USF and 19 consortia

The National Institutes of Health recently announced a second phase of its Rare Disease Clinical Research Network (RDCRN), which includes a Data Management Coordinating Center led by the University of South Florida’s Jeffrey Krischer, PhD. The USF center and 19 new and returning consortia will be awarded $117 million over the next five years. The research conducted with this second round of funding will explore the natural history, epidemiology, diagnosis and treatment of more than 95 rare diseases.

Dr. Krischer, professor and chief of epidemiology and biostatistics for the USF Department of Pediatrics, has been principal investigator for the RDCRN’s data coordinating center from its start. Under his leadership, USF has become the hub for epidemiological research in both rare diseases and juvenile diabetes and garnered world-wide attention as a model for large-scale clinical research. The consortia within the RDCRN funnel their data to USF for collection, storage, management and analysis.

USF has received nearly $15.3 million for the NIH’s rare diseases research initiative over the last five years. With this second phase of funding, Dr. Krischer expects to receive another $15 million over the next five years as data from the new studies come in.

“The great success of the first five years meant we coordinated 10 networks of studies. We’ll now nearly double this to 19 networks,” Dr. Krischer said. “We built a foundation that we’re now expanding to many more diseases, many more countries, and designing studies that will help many more patients. It’s a testimony to the methods we’ve developed at USF that we can now expand into new areas of study.”

“We built our strength in autoimmune disorders,” Dr. Krischer added. “This new funding will expand our scope to primary immune disorders and immune-mediated disorders, as well as many others that we don’t understand well. Some are genetic and some simply have unknown causes. By looking at these rare diseases, we can look at the different facets of the immune system and the role it plays in health.”

“The progress made by researchers through the network is important and impressive,” said NIH Director Francis S. Collins, MD, PhD. “We have shown that this approach can be a catalyst for progress in meeting the challenge of rare diseases, and we are eager to launch this next phase of the program.”

Since its creation in 2003, the RDCRN has enrolled more than 5,000 patients in 33 clinical studies of various rare diseases, ranging from ataxias and primary immune deficiency disorders to inherited neuropathies and mitochondrial diseases. A rare disease is defined as a disease or condition affecting fewer than 200,000 persons in the United States. Approximately 6,500 such disorders have been identified, affecting an estimated 25 million Americans.

The RDCRN is unique in its approach to addressing rare diseases as a group. Previously, the NIH’s institutes and centers funded research on individual rare diseases in their respective disease-type or organ domains. The RDCRN is the first program that aims to create a specialized infrastructure to support rare diseases research.

Patient recruitment for clinical studies is a fundamental challenge in rare diseases research because typically so few patients are affected in any one area. The RDCRN was designed to address this problem by fostering collaboration among scientists and shared access to geographically distributed research resources. Network consortia have also established training programs for clinical investigators who are interested in rare diseases research.

“Collaboration is a critical element of rare diseases research and the partnerships represented in this program have tremendous potential to make great strides in understanding these diseases,” said Stephen C. Groft, PharmD, director of NIH’s Office of Rare Diseases Research (ORDR). “The network emphasizes collaboration not just among investigators from multiple research sites but between investigators and patient advocates as well.”

The direct involvement of patient advocacy groups in network operations, activities, and strategy is a major feature of the RDCRN. Each consortium in the network includes relevant patient advocacy groups in the consortium membership and activities. These patient advocacy group representatives serve as research partners within their own consortia.

Funds and scientific oversight for the RDCRN will be provided by ORDR and seven NIH Institutes, which will also contribute considerable administrative support to the network: the National Institute of Neurological Disorders and Stroke (NINDS), the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), the National Institute of Allergy and Infectious Diseases (NIAID), the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), the National Institute of Dental and Craniofacial Research (NIDCR), the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), and the National Heart, Lung and Blood Institute (NHLBI). Several consortia will also receive financial support from their associated patient advocacy groups.

In the RDCRN’s first phase, the network’s Data and Technology Coordinating Center (DTCC) led by Dr. Krischer developed a management system for the collection, storage, and analysis of RDCRC data, and additional systems to address needs of individual studies, such as a laboratory data collection system, a specimen tracking system, and a pharmacy management system (to support blinded distribution of study agents and placebos).

The DTCC also created RDCRN’s central public Web site, developed as a portal for the rare diseases community, including patients and their families and health care professionals, to provide information on rare disease research, consortium activities, RDCRN-approved protocols, disease information, and practice guidelines. Located at http://rarediseasesnetwork.epi.usf.edu/, the Web site had over 3.4 million visits in 2008. The RDCRN DTCC also developed a unique voluntary patient registry that provides ongoing contact with approximately 5,000 individuals from over 60 countries representing 42 diseases, alerting them when new studies are opened in the network or when ongoing studies expand to new sites.

In this second phase of the RDCRN, USF will continue these data management efforts, under a new name and with a slightly different charge, as the Data Management Coordinating Center (DMCC). 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 the each consortium’s Data and Safety Monitoring Boards to establish protocols for adverse events notification and reporting.