ClinicalTrials.gov
ClinicalTrials.gov Menu

Rare Genetic Disorders of the Breathing Airways

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT00323167
Recruitment Status : Active, not recruiting
First Posted : May 9, 2006
Last Update Posted : January 26, 2018
Sponsor:
Collaborators:
Rare Diseases Clinical Research Network
National Center for Research Resources (NCRR)
National Institutes of Health (NIH)
Information provided by (Responsible Party):
University of North Carolina, Chapel Hill

May 8, 2006
May 9, 2006
January 26, 2018
May 2006
October 2012   (Final data collection date for primary outcome measure)
This is not an interventional study [ Time Frame: This is not an interventional study ]
Not applicable. This is not an interventional study.
Not Provided
Complete list of historical versions of study NCT00323167 on ClinicalTrials.gov Archive Site
Not Provided
Not Provided
Not Provided
Not Provided
 
Rare Genetic Disorders of the Breathing Airways
Rare Genetic Disorders of the Airways: Cross-sectional Comparison of Clinical Features, and Development of Novel Screening and Genetic Tests
Mucociliary clearance, in which mucus secretions are cleared from the breathing airways, is the primary defense mechanism for the lungs. Inhaled particles, including microbes that can cause infections, are normally entrapped in mucus on the airway surfaces and then cleared out by the coordinated action of tiny hair-like structures called cilia. Individuals with primary ciliary dyskinesia, variant cystic fibrosis, and pseudohypoaldosteronism have defective mucociliary clearance. The purpose of this study is to collect clinical and genetic information about these three airway diseases to improve current diagnostic procedures.

Two types of genetic diseases are associated with abnormal mucociliary clearance. The first type results in defective ciliary function and includes primary ciliary dyskinesia (PCD), also known as Kartagener Syndrome. The second type results in defective ion transportation and includes variant cystic fibrosis (CF) and pseudohypoaldosteronism (PHA). The clinical manifestations of these three diseases overlap, and current evaluation procedures are inadequate for an accurate and timely diagnosis. A delayed diagnosis, coupled with poorly defined disease categories, results in sub-optimal treatment regimens. The purpose of this study is to better define the clinical and genetic features of PCD, variant CF, and PHA to develop improved diagnostic procedures. The study will also compare prevalence and age-related information among the three diseases and classic CF. Outcomes of this study may lead to improved clinical care and novel therapeutic approaches for rare genetic disorders of the airways.

Prior to study entry, previous clinical data on all participants will be reviewed to ensure that individuals do not have common variants of asthma. In some cases, further clinical evaluation (sweat chloride testing, immunodeficiency testing, and a high-resolution computed tomography scan) may be recommended. Eligible participants will attend an initial six-hour study visit similar to a standard diagnostic evaluation. The participant's medical history will be reviewed and a physical examination will include height, weight, and vital sign measurements. Respiratory cultures, nasal samples, and blood will be collected. Non-invasive techniques will be used to measure oxyhemoglobin saturation levels and airflow; a chest x-ray will be required if none has been done in the last six months.

If a firm diagnosis of PCD or variant CF has not been established after completion of the first study visit, the participant may return for additional visits. Salivary and semen samples may be collected from some individuals. A sweat chloride test and nasal potential difference test may also be performed.

Observational
Observational Model: Cohort
Time Perspective: Other
Not Provided
Retention:   Samples With DNA
Description:
Respiratory cultures, nasal samples, and blood samples
Non-Probability Sample
Individuals with suspected primary ciliary dyskinesia, non-classical or variant cystic fibrosis, and pseudohypoaldosteronism
  • Kartagener Syndrome
  • Cystic Fibrosis
  • Pseudohypoaldosteronism
  • Primary Ciliary Dyskinesia
Not Provided
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Active, not recruiting
360
Same as current
January 2019
October 2012   (Final data collection date for primary outcome measure)

Inclusion Criteria:

  • Received a standard diagnostic evaluation prior to study entry that resulted in one of the following three profiles:

    1. High likelihood of PCD diagnosis, based on ciliary ultrastructural changes seen on electron microscopy or clinical features (chronic sinopulmonary disease, chronic otitis media, history of neonatal respiratory distress or situs inversus) OR one clinical feature of PCD and a sibling with PCD
    2. Chronic sino-pulmonary disease with clinical features that overlap with variant CF and PCD, but with diagnostic tests that rule out classical CF (sweat chloride testing and CF gene mutation screening)
    3. Known or suspected PHA (or variant PHA), possibly including elevated (or borderline) sweat chloride values

Exclusion Criteria:

  • Has not received a standard clinical evaluation to rule out other disorders associated with chronic sino-pulmonary disease
Sexes Eligible for Study: All
Child, Adult, Older Adult
No
Contact information is only displayed when the study is recruiting subjects
Canada,   United States
 
 
NCT00323167
05-2979
U54RR019480 ( U.S. NIH Grant/Contract )
RDCRN 5902 ( Other Identifier: UNC )
Yes
Not Provided
Not Provided
University of North Carolina, Chapel Hill
University of North Carolina, Chapel Hill
  • Rare Diseases Clinical Research Network
  • National Center for Research Resources (NCRR)
  • National Institutes of Health (NIH)
Principal Investigator: Michael R Knowles, MD University of North Carolina, Chapel Hill
University of North Carolina, Chapel Hill
April 2017