Ignite Creation Date:
2025-12-25 @ 4:02 AM
Ignite Modification Date:
2025-12-26 @ 2:55 AM
Study NCT ID:
NCT00046202
Status:
COMPLETED
Last Update Posted:
2025-12-24
First Post:
2002-09-21
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Study of Inborn Errors of Cholesterol Synthesis and Related Disorders
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D016464', 'term': 'Lysosomal Storage Diseases'}, {'id': 'C537880', 'term': 'Lathosterolosis'}, {'id': 'C562515', 'term': 'Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects'}, {'id': 'C535858', 'term': 'HEM dysplasia'}], 'ancestors': [{'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'OTHER', 'observationalModel': 'OTHER'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 342}}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2002-10-09', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-09-26', 'lastUpdateSubmitDate': '2025-12-23', 'studyFirstSubmitDate': '2002-09-21', 'studyFirstSubmitQcDate': '2002-09-21', 'lastUpdatePostDateStruct': {'date': '2025-12-24', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2002-09-23', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'sample collection', 'timeFrame': 'event driven upon enrollment', 'description': 'collect sample to study rare manifestations or disease'}]}, 'oversightModule': {'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Inborn Error of Cholesterol Synthesis', 'Cholesterol', 'Lysosomal Storage', 'Natural History', 'Inborn Errors of Cholesterol Synthesis', 'Smith-Lemli-Optiz Syndrome', 'Lathosterolosis', 'Desmosterols', 'CHILD Syndrome', 'Greenberg Dysplasia', 'X Linked Dominant Chrondrodysplasia'], 'conditions': ['Lysosomal Storage Disease', 'Cholesterol Metabolism']}, 'referencesModule': {'references': [{'pmid': '10807690', 'type': 'BACKGROUND', 'citation': 'Kelley RI, Hennekam RC. The Smith-Lemli-Opitz syndrome. J Med Genet. 2000 May;37(5):321-35. doi: 10.1136/jmg.37.5.321.'}, {'pmid': '11592808', 'type': 'BACKGROUND', 'citation': 'Nwokoro NA, Wassif CA, Porter FD. Genetic disorders of cholesterol biosynthesis in mice and humans. Mol Genet Metab. 2001 Sep-Oct;74(1-2):105-19. doi: 10.1006/mgme.2001.3226.'}, {'pmid': '12116245', 'type': 'BACKGROUND', 'citation': 'Kelley RI, Kratz LE, Glaser RL, Netzloff ML, Wolf LM, Jabs EW. Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia. Am J Med Genet. 2002 Jun 15;110(2):95-102. doi: 10.1002/ajmg.10510.'}], 'seeAlsoLinks': [{'url': 'https://clinicalstudies.info.nih.gov/cgi/detail.cgi?B_2002-CH-0311.html', 'label': 'NIH Clinical Center Detailed Web Page'}]}, 'descriptionModule': {'briefSummary': 'This study will investigate the cause and medical problems associated with a group of genetic disorders known as inborn errors of cholesterol synthesis, in which the body does not produce cholesterol. People with this disorder may have birth defects and learning and behavioral problems.\n\nPeople with an inborn error of cholesterol synthesis and related disorders, including Smith-Lemli-Opitz syndrome, lathosterolosis, desmosterolosis, X-linked dominant chondrodysplasia, CHILD syndrome, Greenberg dysplasia, and some cases of Antley-Bixler syndrome, may be eligible for this study. People who are carriers of the disorders also may enroll.\n\nParticipants and family members will provide blood and urine samples, as well as other tissue samples collected during medically indicated procedures such as biopsy or surgery. These tissues may include, for example, gallstones, cataracts, cerebrospinal fluid, amniotic fluid, lymph tissue, and DNA samples. In rare instances, a skin biopsy may be requested to aid in establishing a diagnosis.\n\nMedical information will also be gathered from medical records, photographs, and X-rays.\n\n...', 'detailedDescription': 'It is known that inborn errors of cholesterol synthesis give rise to human malformation/cognitive impairment syndromes. Smith-Lemli-Opitz syndrome is the prototypical example of a post-squalene inborn error of metabolism; however, this group of disorders now includes lathosterolosis, desmosterolosis, X-linked dominant chondrodysplasia (CDPX2), CHILD syndrome, HEM dysplasia, and some cases of Antley-Bixler syndrome (1-3). Due to the extremely rare occurrence of some of these disorders, the full phenotypic spectrum has yet to be defined. Cholesterol transport in cells can also cause a disorder known as Niemann-Pick Disease type C (NPC). NPC belongs to a group of disorders known as lysosomal storage disorders. The purpose of this protocol is to 1) allow for the collection of biomaterial and medical information that can be studied to gain insight into the pathological processes; 2) allow for the collection of DNA and medical information from individuals who have a phenotypic resemblance to known disorders of cholesterol synthesis, lysosomal storage disorders or individuals who may be carriers of these disorders.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'maximumAge': '99 Years', 'minimumAge': '1 Day', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Convenience sampling: affected patients and their relatives, samples from biorepositories', 'healthyVolunteers': False, 'eligibilityCriteria': '* INCLUSION CRITERIA:\n\nSubjects will be eligible for this study if they have or are suspected to have an inborn error of cholesterol synthesis or if they are related to a proband with a suspected inborn error of cholesterol synthesis. No exclusions will be made based on gender, ethnicity or age.'}, 'identificationModule': {'nctId': 'NCT00046202', 'briefTitle': 'Study of Inborn Errors of Cholesterol Synthesis and Related Disorders', 'organization': {'class': 'NIH', 'fullName': 'National Institutes of Health Clinical Center (CC)'}, 'officialTitle': 'Investigations Into Inborn Errors of Cholesterol Synthesis and Related Disorders', 'orgStudyIdInfo': {'id': '020311'}, 'secondaryIdInfos': [{'id': '02-CH-0311'}]}, 'armsInterventionsModule': {'armGroups': [{'label': 'normal subjects', 'description': 'subjects in whom no disorder of cholesterol is suspected related to affected individuals'}, {'label': 'subjects suspected of cholesterol disorder', 'description': 'subjects in whom a disorder of cholesterol metabolism is suspected'}]}, 'contactsLocationsModule': {'locations': [{'zip': '20892', 'city': 'Bethesda', 'state': 'Maryland', 'country': 'United States', 'facility': 'National Institutes of Health Clinical Center', 'geoPoint': {'lat': 38.98067, 'lon': -77.10026}}], 'overallOfficials': [{'name': 'Forbes D Porter, M.D.', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO', 'description': 'Data will be shared in aggregate related to the disorders represented by accrual.'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)', 'class': 'NIH'}, 'responsibleParty': {'type': 'SPONSOR'}}}}