Ignite Creation Date:
2025-12-24 @ 5:24 PM
Ignite Modification Date:
2025-12-25 @ 2:59 PM
Study NCT ID:
NCT00005650
Status:
COMPLETED
Last Update Posted:
2005-06-24
First Post:
2000-05-02
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Genetic Study of Patients With Primary Ciliary Dyskinesia
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D002925', 'term': 'Ciliary Motility Disorders'}, {'id': 'D012140', 'term': 'Respiratory Tract Diseases'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D035583', 'term': 'Rare Diseases'}], 'ancestors': [{'id': 'D010038', 'term': 'Otorhinolaryngologic Diseases'}, {'id': 'D000072661', 'term': 'Ciliopathies'}, {'id': 'D000015', 'term': 'Abnormalities, Multiple'}, {'id': 'D000013', 'term': 'Congenital Abnormalities'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D020969', 'term': 'Disease Attributes'}, {'id': 'D010335', 'term': 'Pathologic Processes'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'observationalModel': 'NATURAL_HISTORY'}, 'enrollmentInfo': {'count': 180}}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2000-02'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2003-12', 'lastUpdateSubmitDate': '2005-06-23', 'studyFirstSubmitDate': '2000-05-02', 'studyFirstSubmitQcDate': '2000-05-02', 'lastUpdatePostDateStruct': {'date': '2005-06-24', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2000-05-03', 'type': 'ESTIMATED'}}, 'conditionsModule': {'keywords': ['cardiovascular and respiratory diseases', 'genetic diseases and dysmorphic syndromes', 'primary ciliary dyskinesia', 'rare disease'], 'conditions': ['Primary Ciliary Dyskinesia']}, 'descriptionModule': {'briefSummary': 'OBJECTIVES:\n\nI. Characterize the clinical presentation of patients with primary ciliary dyskinesia.\n\nII. Identify the genetic mutations associated with this disease.', 'detailedDescription': 'PROTOCOL OUTLINE:\n\nParticipants 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.\n\nGenetic studies include molecular linkage analyses, genetic mapping, and gene mutation identification based on large deletions. Microsatellite markers are used to identify polymorphism.\n\nGenetic counseling is provided to all participants.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'minimumAge': '0 Years', 'healthyVolunteers': False, 'eligibilityCriteria': '* Histologically or cytologically confirmed primary ciliary dyskinesia (PCD)\n* Family members of patients with PCD'}, 'identificationModule': {'nctId': 'NCT00005650', 'briefTitle': 'Genetic Study of Patients With Primary Ciliary Dyskinesia', 'organization': {'class': 'NIH', 'fullName': 'National Center for Research Resources (NCRR)'}, 'officialTitle': 'Genetic Study of Patients With Primary Ciliary Dyskinesia', 'orgStudyIdInfo': {'id': 'NCRR-M01RR00046-1395'}, 'secondaryIdInfos': [{'id': 'UNCCH-GCRC-1395'}]}, 'contactsLocationsModule': {'locations': [{'zip': '27599-7070', 'city': 'Chapel Hill', 'state': 'North Carolina', 'country': 'United States', 'facility': 'University of North Carolina School of Medicine', 'geoPoint': {'lat': 35.9132, 'lon': -79.05584}}], 'overallOfficials': [{'name': 'Peadar G. Noone', 'role': 'STUDY_CHAIR', 'affiliation': 'University of North Carolina'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'National Center for Research Resources (NCRR)', 'class': 'NIH'}, 'collaborators': [{'name': 'University of North Carolina', 'class': 'OTHER'}]}}}