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.

Consortium History

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)

Intellectual Property

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.

Patient Engagement

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

McGill University

National Heart, Lung and Blood Institute

National Jewish Health

Stanford University Medical Center

University of North Carolina at Chapel Hill

Washington University

Last Updated: 06/21/2017

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