Genetic Disorders of Mucociliary Clearance Consortium
At a Glance
- Status: Active Consortium
- Year Launched: 2014
- Initiating Organization: National Centers for Advancing Translational Sciences (NCATS)
- Initiator Type: Government
- Disease focus:
Chronic Airways Conditions
- Location: North America
The Genetic Disorders of Mucociliary Clearance Consortium (GDMCC) is a network of nine North American centers that are collaborating in diagnostic testing, genetic studies, and clinical trials in patients with impairments in mucociliary clearance, focusing on primary ciliary dyskinesia, cystic fibrosis, and pseudohypoaldosteronism. Additionally, GDMCC studies target related clinical conditions believed to be due to impaired mucociliary clearance, including idiopathic bronchiectasis and infection with non-tuberculous mycobacterial (NTM) organisms. Ultimately, we hope to better define the clinical pathogenesis of these important airway diseases, improve or expand diagnostic testing, and develop new and effective treatments.
The mission of the GDMCC is to create and maintain a clinical research network to study rare diseases of the airways, focusing on primary ciliary dyskinesia (PCD); NTM pulmonary disease and idiopathic bronchiectasis with rigorous diagnostic evaluations; comparative clinical studies in cystic fibrosis (CF); pseudohypoaldosteronism (PHA); and other chronic airway diseases.
Over the past decade, the GDMCC has made remarkable progress that is already impacting clinical practice. For example, when the GDMCC was established, there was no fully accurate and readily available diagnostic test for PCD, a recessive genetically heterogeneous disorder. In response to that limitation, the GDMCC developed a non-invasive test for PCD (measurement of nasal nitric oxide, nNO) and recently validated that test across multiple sites in North America. The GDMCC was invited to participate in the European BESTCILIA grant proposal, which includes helping to implement nNO testing in Europe. The GDMCC has also played a key role in the discovery of mutations in 20 of the known 28 PCD-causing genes. These genetic discoveries facilitated development of a research genetic test-panel for PCD, which allows simultaneous testing for mutations in all 28 PCD-causing genes, which will identify ~70% of PCD patients.
Structure & Governance
GDMCC is part of the Rare Diseases Research Network (RDCRN), an initiative of the Office of Rare Diseases Research of NCATS.
The consortium is funded by the National Centers for Advancing Translational Sciences (NCATS)
The Genetic Disorders of Mucociliary Clearance Consortium (GDMCC), Rare Diseases Clinical Research Network (RDCRN), and National Institutes of Health (NIH) ensure that the information available on its Web site is accessible to everyone, pursuant to Section 508 of the Rehabilitation Act.
For links to ongoing research studies, click here
For a list of consortium publications, click here
Points of Contact
Cystic Fibrosis/Pulmonary Research & Treatment Center
7215 Marsico Hall
Chapel Hill, NC 27599-7248
Phone : 919-966-0713
Sponsors & Partners
The Children’s Hospital Colorado
Seattle Children’s Hospital
The Hospital for Sick Children
Indiana University School of Medicine, Department of Pediatrics
National Heart, Lung and Blood Institute
National Jewish Health
Stanford University Medical Center
University of North Carolina at Chapel Hill