News Release

UNC leads new study of rare genetic airways disorders;
heads NIH Rare Diseases Clinical Research Network consortium

CHAPEL HILL - The University of North Carolina at Chapel Hill is the lead institution in a new study of rare genetic airways disorders, such as cystic fibrosis and primary ciliary dyskinesia, that is being launched as part of the National Institute of Health's Rare Diseases Clinical Research Network (RDCRN).

UNC also heads a multi-center group within the network, called the Genetic Diseases of Mucociliary Clearance Consortium (GDMCC). Other institutions in the consortium reporting to UNC include Washington University in St. Louis, The Children's Hospital in Denver, Colo., and Children's Hospital & Regional Medical Center in Seattle, Wash. NIH announced the launch of the network's clinical studies, a $71 million effort to address neglected conditions, on May 4.

Dr. Michael Knowles, a professor in the UNC School of Medicine's division of pulmonary and critical care medicine, is principal investigator for both the airways disorders study and the consortium itself.

"The study under way now is aimed at finding new, more effective ways of diagnosing rare genetics airways disorders such as variant cystic fibrosis and primary ciliary dyskinesia," Knowles said. "Also, we will soon begin a longitudinal study of the natural history of these diseases. Our ultimate goal is to launch clinical trials of therapeutic interventions."

Other UNC faculty and staff involved in the project include Dr. Margaret Leigh, professor, and Dr. Stephanie Davis, assistant professor, both in the department of pediatrics; Susan Minnix, a nursing education clinician who is serving as national coordinator for the consortium; Dr. Maimoona Zariwala, a research assistant professor in the department of pathology and laboratory medicine; and Dr. Marcus Kennedy, a fellow in pulmonary care and critical medicine.

UNC is also involved in a separate and unrelated study that is being done under the network's banner. Dr. Robert Roubey, an associate professor in the division of rheumatology, allergy and immunology, is an investigator in a study of the genetics of antiphospholipid antibody syndrome (APS).
That study is being conducted by a different consortium within the network, called the Thrombotic Disease Clinical Research Consortium, which is not based at UNC.

The Rare Diseases Clinical Research Network expects to open more than 20 studies in the next few months at about 50 sites across the United States and in several other countries including the United Kingdom, Japan, and Brazil.

Officially, a rare disease is defined as a disease or condition affecting fewer than 200,000 persons in the United States. About 6,000 such disorders have been identified, impacting an estimated 25 million Americans. Few drug companies conduct research into rare diseases since there is little chance to recoup the costs of developing treatments for such small, geographically dispersed populations.

"By studying the genetic component of these rare diseases, we hope to be able to better predict the course of the illnesses and provide more effective, personalized treatments for those afflicted," said Dr. Elias A. Zerhouni, NIH director. "Ultimately, this individualized approach, completely different from how we treat patients today, will allow us to prevent or to promptly treat the complications arising from these genetic disorders."

The RDCRN has received five-year funding awards totaling $71 million and is coordinated primarily by two NIH components-the Office of Rare Diseases (ORD) and the National Center for Research Resources (NCRR). A central data and technology coordinating center and 10 research
consortia will investigate a variety of diseases.

The initiative includes interventional trials to test new therapies or drugs, as well as longitudinal or natural history studies that will provide information about the characteristics of rare diseases and their progression over time. Data collection standards have been established for the research projects and the data produced will be made publicly available with appropriate safeguards for patient confidentiality.

Each consortium in the network includes active participation by the relevant patient advocacy groups. In addition, the Coalition of Patient Advocacy Groups (CPAG) was created to represent the more than 30 patient advocacy groups involved in the network. CPAG has been instrumental in outreach to the affected populations and gaining their input into the development of studies.

The RDCRN is funded by the ORD; NCRR; National Heart, Lung and Blood Institute; National Institute of Child Health and Human Development; National Institute of Neurological Disorders and Stroke; National Institute of Arthritis and Musculoskeletal and Skin Diseases; and National Institute of Diabetes and Digestive and Kidney Diseases-all components of NIH-an agency of the Department of Health and Human Services.

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School of Medicine contact: Stephanie Crayton, (919) 966-2860 or scrayton@unch.unc.edu