Patients who have Mucociliary Clearance diseases are often recognized late, because definitive testing is not always readily available. Treatment of these disorders is highly variable, since their clinical pathogenesis and treatment are not well-defined. We need to learn more. We need your help.

The Genetic Disorders Of Mucociliary Clearance Consortium is a clinical research network involving eight clinical research sites across North America, The Consortium has focused on several inherited and acquired disorders that lead to suppurative respiratory diseases. During the past fifteen years, we have made numerous advances that profoundly changed clinical practice, particularly in primary ciliary dyskinesia, a rare disease characterized by chronic sinopulmonary infections, middle ear involvement, laterality defects, and infertility. Novel insights into the genetics of primary ciliary dyskinesia have allowed Consortium investigators to define clinical features, revolutionize diagnostics, and uncover genotype-phenotype relationships.

Recently, the GDMCC has expanded its focus to include primary immunodeficiencies, a heterogeneous group of disorders that often share clinical features with primary ciliary dyskinesia.

The GDMCC will:

• Define underlying genetic causes
• Explore pathophysiology and clinical manifestations
• Expand diagnostic capabilities
• Identify therapeutic targets and useful endpoints for future clinical trials

These studies are conducted for our ultimate goal of improving the lives of current and future people affected by these rare, chronic suppurative respiratory diseases.

With your help and participation in the consortium, we will develop a consistent, evidence-based approach to the evaluation of individuals with chronic airway diseases that will yield more precise diagnoses, better standards of clinical care, and advance new and effective treatments.

• If you are a patient or a patient’s family, please review and consider participating in our current studies. Reach out to our partner patient advocacy groups or our study staff with questions.
• If you are not a patient, help spread the word about the GDMCC and the wider Rare Diseases Clinical Research Network. Individually, each of these diseases are rare, but there are over 7000 recognized rare diseases and it is estimated that about 1 in 10 Americans are affected by a rare disease.

Publications from the GDMCC