Genetic Study of Patients With Primary Ciliary Dyskinesia

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT00005650

Enrollment

180

Registered

2000-05-03

Start date

2000-02-29

Completion date

Unknown

Last updated

2005-06-24

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Primary Ciliary Dyskinesia

Keywords

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

Brief summary

OBJECTIVES: I. Characterize the clinical presentation of patients with primary ciliary dyskinesia. II. Identify the genetic mutations associated with this disease.

Detailed description

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.

Interventions

None listed

Study design

Observational model

NATURAL_HISTORY

Eligibility

Sex/Gender

ALL

Age

0 Years to No maximum

Healthy volunteers

Inclusion criteria

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

Countries

United States

Outcome results