Genetic Study of Patients With Primary Ciliary Dyskinesia

OBJECTIVES:

I. Characterize the clinical presentation of patients with primary ciliary dyskinesia.

II. Identify the genetic mutations associated with this disease.

Completed

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Key information

Conditions

Primary Ciliary Dyskinesia Abnormalities, Multiple Ciliary Motility Disorders Ciliopathies Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease Attributes Genetic Diseases, Inborn Otorhinolaryngologic Diseases Pathologic Processes Pathological Conditions, Signs and Symptoms Rare Diseases Respiratory Tract Diseases

Age range

0 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

University of North Carolina School of Medicine

Chapel Hill, North Carolina, 27599-7070, United States

About this study

PROTOCOL OUTLINE:

Participants undergo a scrape biopsy acquisition of nasal cells for ciliary studies, a chest radiograph, sinus radiographs, lung function tests, sputum cultures, nitric oxide measurement, and an ear, nose and throat evaluation to screen for primary ciliary dyskinesia (PCD). Blood collection and/or a buccal scrape is also performed for genetic studies.

Genetic studies include molecular linkage analyses, genetic mapping, and gene mutation identification based on large deletions. Microsatellite markers are used to identify polymorphism.

Genetic counseling is provided to all participants.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Histologically or cytologically confirmed primary ciliary dyskinesia (PCD)
Family members of patients with PCD

Sponsors and collaborators

Lead sponsor

National Center for Research Resources (NCRR)

Nih

Collaborators

University of North Carolina

Registry information

Important dates

Study start: 2000
First posted: May 3, 2000
Registry last updated: Jun 24, 2005

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed