Ignite Creation Date:
2025-12-25 @ 3:55 AM
Ignite Modification Date:
2025-12-26 @ 2:45 AM
Study NCT ID:
NCT00005102
Status:
UNKNOWN
Last Update Posted:
2005-06-24
First Post:
2000-04-06
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D004062', 'term': 'DiGeorge Syndrome'}, {'id': 'D002869', 'term': 'Chromosome Aberrations'}, {'id': 'D000015', 'term': 'Abnormalities, Multiple'}, {'id': 'C535464', 'term': 'Conotruncal cardiac defects'}, {'id': 'D012140', 'term': 'Respiratory Tract Diseases'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D035583', 'term': 'Rare Diseases'}], 'ancestors': [{'id': 'D058165', 'term': '22q11 Deletion Syndrome'}, {'id': 'D019465', 'term': 'Craniofacial Abnormalities'}, {'id': 'D009139', 'term': 'Musculoskeletal Abnormalities'}, {'id': 'D009140', 'term': 'Musculoskeletal Diseases'}, {'id': 'D006330', 'term': 'Heart Defects, Congenital'}, {'id': 'D018376', 'term': 'Cardiovascular Abnormalities'}, {'id': 'D002318', 'term': 'Cardiovascular Diseases'}, {'id': 'D006331', 'term': 'Heart Diseases'}, {'id': 'D044148', 'term': 'Lymphatic Abnormalities'}, {'id': 'D008206', 'term': 'Lymphatic Diseases'}, {'id': 'D006425', 'term': 'Hemic and Lymphatic Diseases'}, {'id': 'D000013', 'term': 'Congenital Abnormalities'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D025063', 'term': 'Chromosome Disorders'}, {'id': 'D007011', 'term': 'Hypoparathyroidism'}, {'id': 'D010279', 'term': 'Parathyroid Diseases'}, {'id': 'D004700', 'term': 'Endocrine System Diseases'}, {'id': 'D010335', 'term': 'Pathologic Processes'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}, {'id': 'D020969', 'term': 'Disease Attributes'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'observationalModel': 'NATURAL_HISTORY'}, 'enrollmentInfo': {'count': 11}}, 'statusModule': {'overallStatus': 'UNKNOWN', 'lastKnownStatus': 'RECRUITING', 'startDateStruct': {'date': '1995-01'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2003-12', 'lastUpdateSubmitDate': '2005-06-23', 'studyFirstSubmitDate': '2000-04-06', 'studyFirstSubmitQcDate': '2000-04-06', 'lastUpdatePostDateStruct': {'date': '2005-06-24', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2000-04-07', 'type': 'ESTIMATED'}}, 'conditionsModule': {'keywords': ['DiGeorge syndrome', 'Shprintzen syndrome', 'cardiovascular and respiratory diseases', 'conotruncal cardiac defects', 'genetic diseases and dysmorphic syndromes', 'rare disease'], 'conditions': ['DiGeorge Syndrome', 'Shprintzen Syndrome', 'Chromosome Abnormalities', 'Abnormalities, Multiple', 'Conotruncal Cardiac Defects']}, 'descriptionModule': {'briefSummary': 'OBJECTIVES:\n\nI. Determine the pattern of immunologic reconstitution in patients with T-cell compromise due to DiGeorge syndrome or velocardiofacial syndrome.\n\nII. Determine any correlation between immunologic function in these patients and chromosome 22 deletion breakpoints.\n\nIII. Determine presence of sustained immunologic compromise in older patients.', 'detailedDescription': "PROTOCOL OUTLINE:\n\nBlood samples are collected at diagnosis of chromosome 22q11 deletion and assessed for lymphocyte proliferation in response to mitogens phytohemagglutinin, pokeweed mitogen, and concanavalin A (mitogen stimulation analyses). These analyses are repeated at 4 months along with a quantitative analysis of immunoglobulin.\n\nAt 8 months, patients are tested for their lymphocytes' ability to respond to antigens (candida, tetanus, and diphtheria). At 1 year, patients have lymphocyte subset, IgG, IgA, and IgM analyses performed. Quantitative evaluations of antibody titers to diphtheria, tetanus, Haemophilus influenza, and hepatitis B are also performed.\n\nOver 1 year of age, all studies are performed if the patient is seen for a single visit."}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'minimumAge': '0 Years', 'healthyVolunteers': False, 'eligibilityCriteria': '* Conotruncal cardiac lesion to be repaired by surgery AND Chromosome 22q11 deletion by FISH'}, 'identificationModule': {'nctId': 'NCT00005102', 'briefTitle': 'Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome', 'organization': {'class': 'NIH', 'fullName': 'National Center for Research Resources (NCRR)'}, 'officialTitle': 'Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome', 'orgStudyIdInfo': {'id': 'NCRR-M01RR00240-1571'}, 'secondaryIdInfos': [{'id': 'CHP-IRB-95-903'}, {'id': 'CHP-GCRC-1571'}]}, 'contactsLocationsModule': {'locations': [{'zip': '19104', 'city': 'Philadelphia', 'state': 'Pennsylvania', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Kathleen E. Sullivan', 'role': 'CONTACT', 'phone': '215-590-1697'}], 'facility': "Children's Hospital of Philadelphia", 'geoPoint': {'lat': 39.95238, 'lon': -75.16362}}], 'overallOfficials': [{'name': 'Kathleen E. Sullivan', 'role': 'STUDY_CHAIR', 'affiliation': "Children's Hospital of Philadelphia"}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'National Center for Research Resources (NCRR)', 'class': 'NIH'}, 'collaborators': [{'name': "Children's Hospital of Philadelphia", 'class': 'OTHER'}]}}}