Children's Hospital Participates in New NIH Study of Rare Genetic Airways Disorders

Children’s Hospital and Regional Medical Center is one of four institutions participating in a new study of rare genetic airways disorders, which is being launched as part of the National Institute of Health’s Rare Diseases Clinical Research Network (RDCRN).

Children’s Hospital and Regional Medical Center is one of four institutions participating in a new study of rare genetic airways disorders, which is being launched as part of the National Institute of Health’s Rare Diseases Clinical Research Network (RDCRN).

The research study will be lead by Dr. Margaret Rosenfeld, a researcher at Children’s Hospital and associate professor of pediatrics at the University of Washington School of Medicine (UWSOM), along with Dr. Ron Gibson, professor of pediatrics at UWSOM, and Dr. Moira Aitken, professor of medicine at UWSOM.

The study under way currently will attempt to find new, more effective ways of diagnosing rare genetic airways disorders such as primary ciliary dyskinesia. The network also plans to conduct a longitudinal study of the natural history of primary ciliary dyskinesia. Other institutions participating in the network, called the Genetic Diseases of Mucociliary Clearance Consortium, include the University of North Carolina at Chapel Hill, Washington University in St. Louis, and The Children’s Hospital in Denver.

“We feel privileged to be one of four participating sites in this national network,” said Rosenfeld. “The goal of this network is to standardize the approach to diagnosis and treatment of primary ciliary dyskinesia and other rare disorders of mucociliary clearance.”

The RDCRN expects to open more than 20 studies in the next few months at about 50 sites across the United States, the United Kingdom, Japan, and Brazil. 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 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, affecting an estimated 25 million Americans.

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.
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.

About Seattle Children’s

Seattle Children’s Hospital, Foundation and Research Institute together deliver superior patient care, advance new discoveries and treatments through pediatric research, and raise funds to create better futures for patients. Consistently ranked as one of the top 10 children’s hospitals in the country by U.S. News & World Report, Seattle Children’s Hospital specializes in meeting the unique physical, emotional and developmental needs of children from infancy through young adulthood. Through the collaboration of physicians in nearly 60 pediatric subspecialties, Seattle Children’s Hospital provides inpatient, outpatient, diagnostic, surgical, rehabilitative, behavioral, and emergency and outreach services to families from around the world.

Located in downtown Seattle’s biotech corridor, Seattle Children’s Research Institute is pushing the boundaries of medical research to find cures for pediatric diseases and improve outcomes for children all over the world. Internationally recognized investigators and staff at the research institute are advancing new discoveries in cancer, genetics, immunology, pathology, infectious disease, injury prevention, bioethics and much more.

Seattle Children’s Hospital and Research Foundation and Seattle Children’s Hospital Guild Association work together to gather community support and raise funds for uncompensated care, clinical care and research. The foundation receives nearly 80,000 gifts each year, from lemonade stand proceeds to corporate sponsorships. Seattle Children’s Hospital Guild Association is the largest all-volunteer fundraising network for any hospital in the country, serving as the umbrella organization for 450 groups of people who turn an activity they love into a fundraiser. Support from the foundation and guild association makes it possible for Seattle Children’s care and research teams to improve the health and well-being of all kids.

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