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| Sponsors and Collaborators: |
National Center for Research Resources (NCRR) University of North Carolina |
|---|---|
| Information provided by: | National Center for Research Resources (NCRR) |
| ClinicalTrials.gov Identifier: | NCT00005650 |
Purpose
OBJECTIVES:
I. Characterize the clinical presentation of patients with primary ciliary dyskinesia.
II. Identify the genetic mutations associated with this disease.
| Condition |
|---|
|
Primary Ciliary Dyskinesia |
| Study Type: | Observational |
| Study Design: | Natural History |
| Official Title: | Genetic Study of Patients With Primary Ciliary Dyskinesia |
| Estimated Enrollment: | 180 |
| Study Start Date: | February 2000 |
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.
Eligibility| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | No |
Contacts and Locations| United States, North Carolina | |
| University of North Carolina School of Medicine | |
| Chapel Hill, North Carolina, United States, 27599-7070 | |
| Study Chair: | Peadar G. Noone | University of North Carolina |
More Information
| Study ID Numbers: | NCRR-M01RR00046-1395, UNCCH-GCRC-1395 |
| Study First Received: | May 2, 2000 |
| Last Updated: | June 23, 2005 |
| ClinicalTrials.gov Identifier: | NCT00005650 |
| Health Authority: | United States: Federal Government |
|
cardiovascular and respiratory diseases genetic diseases and dysmorphic syndromes primary ciliary dyskinesia rare disease |
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Otorhinolaryngologic Diseases Heart Diseases Primary ciliary dyskinesia Cardiovascular Abnormalities Bronchiectasis Respiration Disorders Rare Diseases Central Nervous System Diseases Situs Inversus Dyskinesias Kartagener Syndrome |
Dextrocardia Kartagener syndrome Situs inversus viscerum Signs and Symptoms Genetic Diseases, Inborn Respiratory Tract Diseases Movement Disorders Ciliary Motility Disorders Neurologic Manifestations Congenital Abnormalities Heart Defects, Congenital |
|
Respiratory System Abnormalities Bronchial Diseases Nervous System Diseases Cardiovascular Diseases |
