Status:
COMPLETED
PCD New Gene Discovery
Lead Sponsor:
Vanderbilt University Medical Center
Conditions:
Primary Ciliary Dyskinesia
Eligibility:
All Genders
Up to 90 years
Brief Summary
This is a new gene discovery program for individuals with PCD who do not have a specific genetic etiology identified. Research procedures involve a single blood draw from the affected individual and f...
Detailed Description
The objective of this study is to better define how the genes that cause primary ciliary dyskinesia (PCD) are related to the clinical symptoms of individuals with PCD. PCD is a rare disease that affec...
Eligibility Criteria
Inclusion
- • Age 0-90 years
- Confirmed diagnosis of PCD by either ciliary ultrastructure abnormality or two known disease-causing alleles in a known PCD gene OR individuals with clinical suspicion of PCD without a confirmatory test (genetics or ciliary biopsy) as defined by: low nasal nitric oxide testing (\<77nl/min) on two separate occasions at least two months apart or compatible clinical phenotype, but unable to do nasal nitric oxide testing secondary to age or other factors OR relative of one of the previously defined individuals with PCD
- Ability to provide informed consent or consent of parent/guardian and assent for minors
Exclusion
- • Inability to understand the requirements of the study or be unwilling to provide written informed consent (as evidenced by signature on an informed consent document approved by the IRB) OR inability of parent/guardian to understand the requirements of the study
Key Trial Info
Start Date :
January 7 2019
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
November 20 2024
Estimated Enrollment :
10 Patients enrolled
Trial Details
Trial ID
NCT03801395
Start Date
January 7 2019
End Date
November 20 2024
Last Update
November 25 2024
Active Locations (1)
Enter a location and click search to find clinical trials sorted by distance.
1
Vanderbilt Children's hospital
Nashville, Tennessee, United States, 37232