Cincinnati Children’s has been named the data management and coordinating center for the Rare Diseases Clinical Research Network (RDCRN).
Cincinnati Children’s five-year, $28 million grant from the National Center for Advancing Translational Sciences (NCATS), one of the National Institutes of Health, was announced Oct. 3 with grants to 20 other research centers participating in the RDCRN.
The funds will be used to ensure that rare disease research studies are more efficient, effective, and more often lead to healthcare improvements. The Coordinating Center will facilitate studies involving thousands of scientists across the U.S.—and 22 other nations—by collecting, organizing, sharing, and analyzing exploding amounts of “Big Data” about rare diseases.
Cincinnati Children’s will serve as the centralized source for data storage and sharing among the 20 groups. Cincinnati Children’s also will serve as a learning center to help scientists share best practices about conducting rare disease research. This will include stepped-up efforts to help the many families involved with rare disease advocacy groups become even more involved and informed about the network and its findings.
The learning networks approach envisioned for the rare diseases network trace their roots to the successes of the ImproveCareNow network for people with inflammatory bowel disease (IBD), which was co-created here by Peter Margolis, MD, PhD, and Michael Seid, PhD. This network brought families, physicians and scientists together in fresh ways that helped share the best ways to treat, control and cope with IBD with people no matter where they lived or received care. Since 2007, this network is credited for boosting remission rates for IBD from 55 percent to 77 percent.
The coordinating center will be led by three senior scientists at Cincinnati Children’s: Eileen King, PhD, Division of Biostatistics and Epidemiology; Maurizio Macaluso, MD, DrPH, Director, Biostatistics and Epidemiology; and Peter White, PhD, Director, Division of Biomedical Informatics.
“For scientists, this project will provide access to a wide range of more-standardized clinical, molecular and genomic data along with clinical images and other forms of data, all of which can be used to conduct more robust studies,” King said in a statement.
Overall, scientists have discovered about 7,000 rare diseases, which makes them a major health challenge when considered together. When combined, an estimated 25 to 30 million people in the U.S. are living with a rare disease. That’s about one of every nine people.
However, finding out which rare disease a child or adult might have can plunge families into a diagnostic odyssey that can last for months, even years. Too often, families learn along the way that effective treatments exist for only about 5 percent of known rare diseases.
In an effort to organize this difficult work, Congress passed a law in 2002 authorizing several agencies within the National Institutes of Health to launch the Rare Diseases Clinical Research Network (RDCRN). Since then, the network has grown to support hundreds of studies via approximately 20 “consortia” focused on specific types of disease. This research is conducted at more than 350 sites in the U.S. and more than 50 sites in 22 other countries. One of those consortia—the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR)—is based at Cincinnati Children’s. Together, these studies have involved more than 56,000 patients, including rare cancers, heart and lung disorders, and diseases of brain development.
