$28 million grant supports Cincinnati Children's role as coordinating center for Rare Diseases Clinical Research Network

The federal agency that oversees a large network of research centers seeking cures for hundreds of rare, disabling and often fatal diseases has named Cincinnati Children's as its new data management and coordinating center.

The five-year, $28 million grant from the National Center for Advancing Translational Sciences (NCATS), one of the National Institutes of Health, is among the largest ever received by Cincinnati Children's. The first year of funding for Cincinnati Children's role was announced today along with grants to 20 other research centers participating in the Rare Diseases Clinical Research Network (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.

The 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."

Eileen King, PhD, Division of Biostatistics and Epidemiology, Cincinnati Children's

White says: "For families and physicians, this work will help accelerate rare disease research, and that eventually will lead to more clinical trials of new medications, improved diagnostic technologies and other innovations that will improve and extend lives."

"This project underscores Cincinnati Children's commitment to expert data management, biostatistics, epidemiology and informatics as indispensable disciplines for advancing pediatric research and care," Macaluso says. "It offers a significant opportunity for our institution to lead research across the nation and touch the lives of millions who live with rare diseases."

Taking on the challenge of rare diseases

In the United States, a disease or disorder is defined as "rare" when it affects fewer than 200,000 people at a given time. In Europe, the definition of "rare" applies to diseases affecting fewer than one in 2,000 people.

Some rare diseases are well-known, such as cystic fibrosis, Rett syndrome or Tay-Sachs disease. Others carry less familiar names, such as eosinophilic esophagitis (EoE), 22q13 deletion syndrome, and many others.

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% of known rare diseases.

What is the Rare Diseases Clinical Research Network?

The research world has struggled for decades to gather needed information from the small numbers of widely scattered patients who may have a particular rare disease. 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.

What is Cincinnati Children's new role?

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 center's goals include:

  • Providing clinical research and data management and coordinating support to individual research consortia.
  • Coordinating activities across the network and further advancing the network as the prominent critical rare diseases resource.
  • Serving as the major conduit of research information from the network to the scientific community, including regulatory agencies, the pharmaceutical industry, physicians, patients, and families.

Why did the NIH select Cincinnati Children's?

Supporters of Cincinnati Children's and the University of Cincinnati have invested deeply for more than a decade to build the high-tech infrastructure and assemble the expertise needed to exploit an explosion of clinical and molecular data technologies for use in medical research. Developing ways to share these evolving collections of information has become a specialty for Cincinnati Children's.

King and White already serve as co-principal investigators for the large Bench to Bassinet Program, which Cincinnati Children's received in 2016 to expand upon a network of research centers studying congenital heart defects.

"The combined expertise and infrastructure at Cincinnati Children's and the University of Cincinnati that attracted the Bench to Bassinet Program also attracted the Rare Diseases Center and has supported hundreds of other research projects," Macaluso says.

Meanwhile, 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.

"Seid will be working closely with the rare diseases coordinating center," White says. Many other Cincinnati Children's faculty and senior staff also will be involved, including Michael Wagner, PhD; Michal Kouril, PhD; Lori Crosby, PsyD; Rachel Akers, MPH; Cynthia Baker, BS, LPN; Michelle Adams, PhD; and Emily Oehler, MEd. Brett Kissela, MD, Department Chair of Neurology at the University of Cincinnati, will facilitate access to adult-based disease research expertise within the College of Medicine.

"One of our biggest goals is to improve our outreach to the rare diseases community," King says. "We want input from patient advocacy groups and treating physicians at all points on this journey, from study design to disseminating results to having a voice in what happens next."

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