Genetic Study of Patients With Primary Ciliary Dyskinesia

Status Completed

Clinical Trial Summary

OBJECTIVES:

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

II. Identify the genetic mutations associated with this disease.

Clinical Trial 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. ;

Study Design

Observational Model: Natural History

Related Conditions & MeSH terms

Clinical Trial Details

NCT number	NCT00005650
Study type	Observational
Source	National Center for Research Resources (NCRR)
Contact
Status	Completed
Phase	N/A
Start date	February 2000

View Details

See also
Status	Clinical Trial	Phase
Recruiting	`NCT05889013` - Utility of PCD Diagnostics to Improve Clinical Care
Recruiting	`NCT01246258` - Otolith Function in Patients With Primary Ciliary Dyskinesia	N/A
Completed	`NCT04858191` - Utilizing Hyperpolarized 129Xe Magnetic Resonance Imaging in Children With Primary Ciliary Dyskinesia
Completed	`NCT05712798` - Physiological Responses to Exercise Tests in Primary Ciliary Dyskinesia Compared With Healthy Individuals
Completed	`NCT03370029` - Respiratory Muscle Strength, Exercise Capacity and Physical Activity Levels in Children Primary Ciliary Dyskinesia
Completed	`NCT00368446` - Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung Disease
Recruiting	`NCT05374720` - Analysis of the Molecular Composition of Tubal Cilia in Patients With or Without Ectopic Pregnancy	N/A
Completed	`NCT05816876` - Muscle Function, Exercise Capacity and Physical Activity Level in Primary Ciliary Dyskinesia and Kartagener Syndrome
Recruiting	`NCT04717115` - Genotype/Phenotype Correlation With Focus on Lung Function in Primary Ciliary Dyskinesia (PCD)
Recruiting	`NCT03279965` - MRI in Cystic Fibrosis and Primary Ciliary Dyskinesia	N/A
Recruiting	`NCT03320382` - Multiple Breath Washout, a Clinimetric Dataset
Recruiting	`NCT04602481` - COVID-19 in People With Primary Ciliary Dyskinesia
Not yet recruiting	`NCT02704455` - Registry Study on Primary Ciliary Dyskinesia in Chinese Children	N/A
Completed	`NCT00323167` - Rare Genetic Disorders of the Breathing Airways
Recruiting	`NCT05932316` - Evaluating Bronchodilator Response in Patients With Bronchiectasis	N/A
Completed	`NCT03832491` - Effect of Game Based Approach on Oxygenation, Functional Capacity and Quality of Life in Primary Ciliary Dyskinesia	N/A
Recruiting	`NCT05951478` - DCP (RaDiCo Cohort) (RaDiCo-DCP)
Completed	`NCT06028607` - Feasibility of Consumption of Nutritional Supplementation in Primary Ciliary Dyskinesia	N/A
Recruiting	`NCT05685186` - A Longitudinal, Observational Study of Primary Ciliary Dyskinesia in Adults
Recruiting	`NCT05161858` - Longitudinal Characterization of Respiratory Tract Exacerbations and Treatment Responses in Primary Ciliary Dyskinesia