Ignite Creation Date:
2024-05-05 @ 11:22 AM
Last Modification Date:
2024-10-26 @ 9:05 AM
Study NCT ID:
NCT00005650
Status:
COMPLETED
Last Update Posted:
2005-06-24
First Post:
2000-05-02
Brief Title:
Genetic Study of Patients With Primary Ciliary Dyskinesia
Sponsor:
National Center for Research Resources NCRR
Organization:
National Center for Research Resources NCRR
Study Overview
Official Title:
Genetic Study of Patients With Primary Ciliary Dyskinesia
Status:
COMPLETED
Status Verified Date:
2003-12
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
OBJECTIVES
I Characterize the clinical presentation of patients with primary ciliary dyskinesia
II Identify the genetic mutations associated with this disease
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 andor 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
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 andor 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 Oversight
Has Oversight DMC:
Is a FDA Regulated Drug?:
Is a FDA Regulated Device?:
Is an Unapproved Device?:
Is a PPSD?:
Is a US Export?:
Is an FDA AA801 Violation?:
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| UNCCH-GCRC-1395 | None | None | None |