Ignite Creation Date:
2025-12-24 @ 10:34 PM
Ignite Modification Date:
2026-01-01 @ 12:41 AM
Study NCT ID:
NCT00365235
Status:
COMPLETED
Last Update Posted:
2012-01-12
First Post:
2006-08-16
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Understanding the Genetic Basis of Familial Combined Hyperlipidemia in Mexican Individuals
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D006950', 'term': 'Hyperlipidemia, Familial Combined'}, {'id': 'D003327', 'term': 'Coronary Disease'}], 'ancestors': [{'id': 'D008052', 'term': 'Lipid Metabolism, Inborn Errors'}, {'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D006949', 'term': 'Hyperlipidemias'}, {'id': 'D050171', 'term': 'Dyslipidemias'}, {'id': 'D052439', 'term': 'Lipid Metabolism Disorders'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}, {'id': 'D017202', 'term': 'Myocardial Ischemia'}, {'id': 'D006331', 'term': 'Heart Diseases'}, {'id': 'D002318', 'term': 'Cardiovascular Diseases'}, {'id': 'D014652', 'term': 'Vascular Diseases'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Whole blood sample is taken from all participants and adipose tissue sample from a subgroup.'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'CROSS_SECTIONAL', 'observationalModel': 'FAMILY_BASED'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 998}}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2006-07'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2012-01', 'completionDateStruct': {'date': '2011-06', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2012-01-11', 'studyFirstSubmitDate': '2006-08-16', 'studyFirstSubmitQcDate': '2006-08-16', 'lastUpdatePostDateStruct': {'date': '2012-01-12', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2006-08-17', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2011-06', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Identifying the specific genes that predispose Mexican individuals to FCHL', 'timeFrame': 'Measured through the use of genetic samples'}]}, 'conditionsModule': {'conditions': ['Hyperlipidemia, Familial Combined', 'Coronary Disease']}, 'descriptionModule': {'briefSummary': 'Familial combined hyperlipidemia (FCHL) is an inherited disorder characterized by elevated levels of cholesterol and triglycerides; it often occurs in Mexican individuals with coronary heart disease (CHD). The purpose of this study is to identify the specific genes that predispose Mexican individuals to FCHL.', 'detailedDescription': 'CHD is the leading cause of death in Mexico. Dyslipidemia that is characterized by high total cholesterol, high triglycerides, and low "good" high-density lipoprotein (HDL) cholesterol is a risk factor for developing CHD. Research has shown that the Mexican population has an increased tendency towards dyslipidemia, but it is not known what genetic factors contribute to this predisposition. This study will examine the genetic basis of FCHL, which is an inherited form of dyslipidemia characterized by elevated levels of total cholesterol and triglycerides. FCHL is a major contributing factor in CHD; 20% of individuals with CHD under the age of 60 have FCHL. The purpose of this study is to identify and characterize the specific DNA sequence variations that predispose Mexican individuals to FCHL. Results of this study may aid in the development of appropriate prevention and screening techniques.\n\nThis study will enroll individuals in Mexico who have FCHL. Participants will attend one study visit for blood collection and DNA sampling. Family members of participants will be contacted and asked to provide a DNA sample also. A select group of participants will return for a second study visit for RNA sampling. Study researchers will analyze participants\' DNA and RNA samples, as well as two FCHL genes identified in previous research studies.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'maximumAge': '80 Years', 'minimumAge': '10 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Study subjects are Mexicans visiting the Dyslipidemia Clinic at the Instituto Nacional de Ciencias Medicas y Nutricion, Salvador Zubiran, Mexico City, and their family members', 'healthyVolunteers': True, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Elevated levels of serum total cholesterol, triglycerides, or both\n* Elevated levels of serum apolipoprotein B (using the Mexican population percentiles)\n\nExclusion Criteria:\n\n* Tendon xanthomas\n* Kidney disease\n* Thyroid disorder'}, 'identificationModule': {'nctId': 'NCT00365235', 'briefTitle': 'Understanding the Genetic Basis of Familial Combined Hyperlipidemia in Mexican Individuals', 'organization': {'class': 'OTHER', 'fullName': 'University of California, Los Angeles'}, 'officialTitle': 'Genetic Susceptibility to Common Lipid Disorders in Mexico', 'orgStudyIdInfo': {'id': '1348'}, 'secondaryIdInfos': [{'id': 'R01HL082762-01A1', 'link': 'https://reporter.nih.gov/quickSearch/R01HL082762-01A1', 'type': 'NIH'}]}, 'contactsLocationsModule': {'locations': [{'zip': '14000', 'city': 'Mexico City', 'country': 'Mexico', 'facility': 'Instituto Nacional De Ciencias Medicas y Nutricion', 'geoPoint': {'lat': 19.42847, 'lon': -99.12766}}], 'overallOfficials': [{'name': 'Paivi E. Pajukanta, MD, PhD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'David Geffen School of Medicine at UCLA, Department of Human Genetics'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University of California, Los Angeles', 'class': 'OTHER'}, 'collaborators': [{'name': 'National Heart, Lung, and Blood Institute (NHLBI)', 'class': 'NIH'}], 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Professor', 'investigatorFullName': 'Paivi Pajukanta', 'investigatorAffiliation': 'University of California, Los Angeles'}}}}