Genetic Study of Patients With Primary Ciliary Dyskinesia

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

180 participants

Study Classification

OBSERVATIONAL

Study Start Date

2000-02-29

Brief Summary

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OBJECTIVES:

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

II. Identify the genetic mutations associated with this disease.

Detailed Description

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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.

Conditions

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Primary Ciliary Dyskinesia

Keywords

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cardiovascular and respiratory diseases genetic diseases and dysmorphic syndromes primary ciliary dyskinesia rare disease

Study Design

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Observational Model Type

NATURAL_HISTORY

Eligibility Criteria

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Inclusion Criteria

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

Minimum Eligible Age

0 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Principal Investigators

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Peadar G. Noone

Role: STUDY_CHAIR

University of North Carolina

Locations

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University of North Carolina School of Medicine

Chapel Hill, North Carolina, United States

Site Status

Countries

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United States

Other Identifiers

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UNCCH-GCRC-1395

Identifier Type: -

Identifier Source: secondary_id

NCRR-M01RR00046-1395