Ignite Creation Date:
2025-12-24 @ 6:50 PM
Ignite Modification Date:
2025-12-28 @ 12:56 AM
Study NCT ID:
NCT00006057
Status:
COMPLETED
Last Update Posted:
2005-06-24
First Post:
2000-07-05
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Diagnostic and Screening Study of Genetic Disorders
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D013661', 'term': 'Tay-Sachs Disease'}, {'id': 'D017092', 'term': 'Porphyria, Erythropoietic'}, {'id': 'D007965', 'term': 'Leukodystrophy, Globoid Cell'}, {'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}], 'ancestors': [{'id': 'D020143', 'term': 'Gangliosidoses, GM2'}, {'id': 'D005733', 'term': 'Gangliosidoses'}, {'id': 'D013106', 'term': 'Sphingolipidoses'}, {'id': 'D020140', 'term': 'Lysosomal Storage Diseases, Nervous System'}, {'id': 'D020739', 'term': 'Brain Diseases, Metabolic, Inborn'}, {'id': 'D001928', 'term': 'Brain Diseases, Metabolic'}, {'id': 'D001927', 'term': 'Brain Diseases'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D008064', 'term': 'Lipidoses'}, {'id': 'D008052', 'term': 'Lipid Metabolism, Inborn Errors'}, {'id': 'D016464', 'term': 'Lysosomal Storage Diseases'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}, {'id': 'D052439', 'term': 'Lipid Metabolism Disorders'}, {'id': 'D012873', 'term': 'Skin Diseases, Genetic'}, {'id': 'D012871', 'term': 'Skin Diseases'}, {'id': 'D017437', 'term': 'Skin and Connective Tissue Diseases'}, {'id': 'D011164', 'term': 'Porphyrias'}, {'id': 'D020279', 'term': 'Hereditary Central Nervous System Demyelinating Diseases'}, {'id': 'D056784', 'term': 'Leukoencephalopathies'}, {'id': 'D003711', 'term': 'Demyelinating Diseases'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'enrollmentInfo': {'count': 50}}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '1999-12'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2002-04', 'lastUpdateSubmitDate': '2005-06-23', 'studyFirstSubmitDate': '2000-07-05', 'studyFirstSubmitQcDate': '2000-07-05', 'lastUpdatePostDateStruct': {'date': '2005-06-24', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2000-07-06', 'type': 'ESTIMATED'}}, 'conditionsModule': {'conditions': ['Tay-Sachs Disease', 'Porphyria, Erythropoietic', 'Leukodystrophy, Globoid Cell', 'Metabolism, Inborn Errors']}, 'descriptionModule': {'briefSummary': 'OBJECTIVES: I. Determine the phenotypic heterogeneity of patients with genetic disorders including their clinical spectrum and natural history.\n\nII. Develop and evaluate novel methods for the treatment of genetic disorders including metabolic manipulation, enzyme manipulation, enzyme replacement, enzyme transplantation, and gene transfer techniques in these patients.\n\nIII. Develop and evaluate methods for the prenatal diagnosis of genetic disorders using improved cytogenetic, biochemical, and nucleic acid techniques and amniotic fluid cells or chorionic villi in these patients.', 'detailedDescription': 'PROTOCOL OUTLINE:\n\nPatients are evaluated annually or biannually, depending on disease status and progression. Patients undergo a complete medical history, an extensive family pedigree, and a physical examination. Patients undergo general laboratory, imaging, physiologic, and clinical laboratory studies according to their disease type. Patients undergo specialized laboratory studies including plasma and leukocyte enzyme assays, quantitative urinary mucopolysaccharides and oligosaccharides, urine and plasma glycolipids, plasma and urine amino acids, urine organic acids, lymphoblastoid culture, DNA isolation from peripheral leukocytes, skin biopsy for fibroblast culture (if indicated), and medical photography. Patients also receive consultations with various specialties including ophthalmology, ENT, cardiology, pulmonary, gastroenterology/nutrition, hematology, neurology, orthopedics, rehabilitation medicine/physical therapy, and dermatology.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'minimumAge': '0 Years', 'healthyVolunteers': False, 'eligibilityCriteria': '* Suspected diagnosis (homozygous or heterozygous) of a genetic disorder including, but not limited to, one of the following: Tay-Sachs disease (adult form) Congenital erythropoietic porphyria Galactosemia Mitochondrial myopathy Globoid cell leukodystrophy (Krabbe disease) Methylmalonic acidemia Isovaleric acidemia Morquio type A Glycogen storage disease type 1AB Ornithine aminotransferase deficiency Ceroid lipofuscinosis Glutaric aciduria type 1 Citrullinemia Other malformation syndromes, lysosomal storage disorders, or peroxisomal disorders'}, 'identificationModule': {'nctId': 'NCT00006057', 'briefTitle': 'Diagnostic and Screening Study of Genetic Disorders', 'organization': {'class': 'NIH', 'fullName': 'National Center for Research Resources (NCRR)'}, 'orgStudyIdInfo': {'id': '199/15151'}, 'secondaryIdInfos': [{'id': 'MTS-GCO-88-459'}]}, 'contactsLocationsModule': {'locations': [{'zip': '10029', 'city': 'New York', 'state': 'New York', 'country': 'United States', 'facility': 'Mount Sinai School of Medicine', 'geoPoint': {'lat': 40.71427, 'lon': -74.00597}}], 'overallOfficials': [{'name': 'Judith P. Willner', 'role': 'STUDY_CHAIR', 'affiliation': 'Icahn School of Medicine at Mount Sinai'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'National Center for Research Resources (NCRR)', 'class': 'NIH'}, 'collaborators': [{'name': 'Icahn School of Medicine at Mount Sinai', 'class': 'OTHER'}]}}}