Ignite Creation Date:
2025-12-24 @ 11:39 PM
Ignite Modification Date:
2025-12-30 @ 12:42 PM
Study NCT ID:
NCT00004351
Status:
COMPLETED
Last Update Posted:
2005-06-24
First Post:
1999-10-18
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D018980', 'term': 'Williams Syndrome'}, {'id': 'D017204', 'term': 'Angelman Syndrome'}, {'id': 'D011218', 'term': 'Prader-Willi Syndrome'}, {'id': 'D004062', 'term': 'DiGeorge Syndrome'}, {'id': 'D058496', 'term': 'Smith-Magenis Syndrome'}, {'id': 'D002869', 'term': 'Chromosome Aberrations'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009461', 'term': 'Neurologic Manifestations'}, {'id': 'D001523', 'term': 'Mental Disorders'}, {'id': 'D035583', 'term': 'Rare Diseases'}], 'ancestors': [{'id': 'D008607', 'term': 'Intellectual Disability'}, {'id': 'D019954', 'term': 'Neurobehavioral Manifestations'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D021921', 'term': 'Aortic Stenosis, Supravalvular'}, {'id': 'D001024', 'term': 'Aortic Valve Stenosis'}, {'id': 'D000082862', 'term': 'Aortic Valve Disease'}, {'id': 'D006349', 'term': 'Heart Valve Diseases'}, {'id': 'D006331', 'term': 'Heart Diseases'}, {'id': 'D002318', 'term': 'Cardiovascular Diseases'}, {'id': 'D025063', 'term': 'Chromosome Disorders'}, {'id': 'D000013', 'term': 'Congenital Abnormalities'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D009069', 'term': 'Movement Disorders'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D000015', 'term': 'Abnormalities, Multiple'}, {'id': 'D000096803', 'term': 'Imprinting Disorders'}, {'id': 'D009765', 'term': 'Obesity'}, {'id': 'D050177', 'term': 'Overweight'}, {'id': 'D044343', 'term': 'Overnutrition'}, {'id': 'D009748', 'term': 'Nutrition Disorders'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}, {'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': 'D044148', 'term': 'Lymphatic Abnormalities'}, {'id': 'D008206', 'term': 'Lymphatic Diseases'}, {'id': 'D006425', 'term': 'Hemic and Lymphatic Diseases'}, {'id': 'D007011', 'term': 'Hypoparathyroidism'}, {'id': 'D010279', 'term': 'Parathyroid Diseases'}, {'id': 'D004700', 'term': 'Endocrine System Diseases'}, {'id': 'D021081', 'term': 'Chronobiology Disorders'}, {'id': 'D010335', 'term': 'Pathologic Processes'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}, {'id': 'D012816', 'term': 'Signs and Symptoms'}, {'id': 'D020969', 'term': 'Disease Attributes'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'enrollmentInfo': {'count': 20}}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '1999-09'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2003-10', 'lastUpdateSubmitDate': '2005-06-23', 'studyFirstSubmitDate': '1999-10-18', 'studyFirstSubmitQcDate': '1999-10-18', 'lastUpdatePostDateStruct': {'date': '2005-06-24', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '1999-10-19', 'type': 'ESTIMATED'}}, 'conditionsModule': {'keywords': ['Angelman syndrome', 'DiGeorge syndrome', 'Prader-Willi syndrome', 'Shprintzen syndrome', 'Smith-Magenis syndrome', 'Williams syndrome', 'genetic diseases and dysmorphic syndromes', 'neurologic and psychiatric disorders', 'rare disease'], 'conditions': ['Williams Syndrome', 'Angelman Syndrome', 'Prader-Willi Syndrome', 'Shprintzen Syndrome', 'Smith-Magenis Syndrome', 'DiGeorge Syndrome', 'Chromosome Abnormalities']}, 'descriptionModule': {'briefSummary': 'OBJECTIVES: I. Investigate phenotype and genotype correlations in patients with Smith-Magenis syndrome (SMS) associated with del(17p11.2).\n\nII. Clinically evaluate SMS patients with unusual deletions or duplication of proximal 17p.\n\nIII. Clinically evaluate patients with Williams syndrome with molecular characterization of 7q11.23.\n\nIV. Perform clinical studies of Prader-Willi, Angelman, DiGeorge, and Shprintzen syndrome patients with unique molecular findings in 15q11q13 or 22q11.2.\n\nV. Perform genotype and phenotype correlations in Prader-Willi patients, particularly those with loss of expression of only some of the imprinted transcripts in 15q11-q13.\n\nVI. Evaluate putative Angelman syndrome patients who do not have classic large deletion, uniparental disomy, or imprinting mutations, and perform molecular studies of the Angelman gene, UBE3A, and identify mutations of this gene.\n\nVII. Investigate phenotype and genotype correlations in patients with terminal deletions of chromosome 1p.', 'detailedDescription': 'PROTOCOL OUTLINE: Patients undergo clinical, cytogenetic, and molecular studies. These include radiographic, neurologic, developmental, and 24 hour sleep studies, ophthalmologic, otolaryngologic, speech and language, and audiologic exams, echocardiogram, and renal ultrasound.\n\nSmith-Magenis patients are also evaluated with the following: urine melatonin levels during day and night hours; anthropometrics; sleep and behavioral history; and renal, immunologic, and cholesterol studies. A clinical and phenotypic map is constructed.\n\nWhen appropriate, parental chromosome analysis is performed.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'minimumAge': '0 Years', 'healthyVolunteers': False, 'eligibilityCriteria': 'PROTOCOL ENTRY CRITERIA:\n\n--Disease Characteristics-- Contiguous gene deletion syndrome, e.g.: Smith-Magenis syndrome Williams syndrome DiGeorge syndrome Shprintzen syndrome (velo-cardio-facial syndrome) Prader-Willi syndrome Angelman syndrome Deletion of chromosome 1p Patient age: Any age'}, 'identificationModule': {'nctId': 'NCT00004351', 'briefTitle': 'Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes', 'organization': {'class': 'NIH', 'fullName': 'Office of Rare Diseases (ORD)'}, 'orgStudyIdInfo': {'id': '199/11914'}, 'secondaryIdInfos': [{'id': 'BCM-H4299'}]}, 'contactsLocationsModule': {'locations': [{'zip': '77030', 'city': 'Houston', 'state': 'Texas', 'country': 'United States', 'facility': 'Baylor College of Medicine', 'geoPoint': {'lat': 29.76328, 'lon': -95.36327}}], 'overallOfficials': [{'name': 'James R. Lupski', 'role': 'STUDY_CHAIR', 'affiliation': 'Baylor College of Medicine'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'National Institute of Neurological Disorders and Stroke (NINDS)', 'class': 'NIH'}, 'collaborators': [{'name': 'Baylor College of Medicine', 'class': 'OTHER'}]}}}