Trial ID or NCT#

NCT00323167

Status

RECRUITING

Purpose

Mucociliary clearance, in which mucus secretions are cleared from the breathing airways, is the primary defense mechanism for the lungs. Inhaled particles, including microbes that can cause infections, are normally entrapped in mucus on the airway surfaces and then cleared out by the coordinated action of tiny hair-like structures called cilia. Individuals with primary ciliary dyskinesia, variant cystic fibrosis, and pseudohypoaldosteronism have defective mucociliary clearance. The purpose of this study is to collect clinical and genetic information about these three airway diseases to improve current diagnostic procedures.

Official Title

Rare Genetic Disorders of the Airways: Cross-sectional Comparison of Clinical Features, and Development of Novel Screening and Genetic Tests

Eligibility Criteria

Sexes Eligible for Study: All
Accepts Healthy Volunteers: No

Investigator(s)

Carlos Milla
Paul Mohabir
Critical care specialist, Cystic fibrosis specialist, Interstitial lung disease specialist, Pulmonary critical care specialist
Clinical Professor, Medicine - Pulmonary & Critical Care Medicine
John D. Mark
Clinical Professor, Pediatrics - Pulmonary Medicine
Carol Conrad
Cystic fibrosis specialist, Heart and lung transplant specialist, Interstitial lung disease specialist, Interventional pulmonologist, Lung transplant specialist
Associate Professor of Pediatrics (Pulmonary Medicine) at Lucile Salter Packard Children's Hospital
Terry Robinson
Cystic fibrosis specialist
Associate Professor of Pediatrics (Pulmonary) at the Lucile Salter Packard Children's Hospital, Emeritus
Richard B. Moss
Professor of Pediatrics at the Lucile Salter Packard Children's Hospital, Emeritus
David N. Cornfield
Pulmonologist
Anne T. and Robert M. Bass Professor in Pediatric Pulmonary Medicine and Professor, by courtesy, of Surgery

Contact us to find out if this trial is right for you.

CONTACT

Colleen Dunn
(650) 736-0388