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Understanding the Genetic Basis of Familial Combined Hyperlipidemia in Mexican Individuals
This study is currently recruiting participants.
Verified by National Heart, Lung, and Blood Institute (NHLBI), February 2009
First Received: August 16, 2006   Last Updated: February 25, 2009   History of Changes
Sponsored by: National Heart, Lung, and Blood Institute (NHLBI)
Information provided by: National Heart, Lung, and Blood Institute (NHLBI)
ClinicalTrials.gov Identifier: NCT00365235
  Purpose

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.


Condition
Hyperlipidemia, Familial Combined
Coronary Disease

Genetics Home Reference related topics: Chanarin-Dorfman syndrome cholesteryl ester storage disease Farber lipogranulomatosis long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency mitochondrial trifunctional protein deficiency primary carnitine deficiency
MedlinePlus related topics: Coronary Artery Disease
U.S. FDA Resources
Study Type: Observational
Study Design: Family-Based, Cross-Sectional
Official Title: Genetic Susceptibility to Common Lipid Disorders in Mexico

Further study details as provided by National Heart, Lung, and Blood Institute (NHLBI):

Primary Outcome Measures:
  • Identifying the specific genes that predispose Mexican individuals to FCHL [ Time Frame: Measured through the use of genetic samples ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

Biospecimen Description:

Whole blood sample is taken from all participants and adipose tissue sample from a subgroup.


Estimated Enrollment: 850
Study Start Date: July 2006
Estimated Study Completion Date: June 2010
Estimated Primary Completion Date: June 2010 (Final data collection date for primary outcome measure)
Detailed Description:

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.

This 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.

  Eligibility

Ages Eligible for Study:   10 Years to 80 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

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

Criteria

Inclusion Criteria:

  • Elevated levels of serum total cholesterol, triglycerides, or both
  • Elevated levels of serum apolipoprotein B (using the Mexican population percentiles)

Exclusion Criteria:

  • Tendon xanthomas
  • Kidney disease
  • Thyroid disorder
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT00365235

Contacts
Contact: Paivi E. Pajukanta, MD, PhD 310-267-2011 ppajukanta@mednet.ucla.edu

Locations
Mexico
Instituto Nacional De Ciencias Medicas y Nutricion Recruiting
Mexico City, Mexico, 14000
Sponsors and Collaborators
Investigators
Principal Investigator: Paivi E. Pajukanta, MD, PhD David Geffen School of Medicine at UCLA, Department of Human Genetics
  More Information

No publications provided

Responsible Party: Department of Human Genetics, David Geffen School of Medicine at UCLA ( Paivi Pajukanta )
Study ID Numbers: 1348, R01 HL082762-01A1
Study First Received: August 16, 2006
Last Updated: February 25, 2009
ClinicalTrials.gov Identifier: NCT00365235     History of Changes
Health Authority: United States: Federal Government

Study placed in the following topic categories:
Lipid Metabolism, Inborn Errors
Arterial Occlusive Diseases
Metabolic Diseases
Hyperlipidemias
Heart Diseases
Disease Susceptibility
Myocardial Ischemia
Vascular Diseases
Ischemia
Arteriosclerosis
Coronary Disease
Metabolism, Inborn Errors
Combined Hyperlipidemia, Familial
Genetic Diseases, Inborn
Hyperlipidemia, Familial Combined
Genetic Predisposition to Disease
Metabolic Disorder
Dyslipidemias
Coronary Artery Disease
Lipid Metabolism Disorders

Additional relevant MeSH terms:
Lipid Metabolism, Inborn Errors
Arterial Occlusive Diseases
Hyperlipidemias
Heart Diseases
Metabolic Diseases
Myocardial Ischemia
Vascular Diseases
Arteriosclerosis
Coronary Disease
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Hyperlipidemia, Familial Combined
Cardiovascular Diseases
Coronary Artery Disease
Dyslipidemias
Lipid Metabolism Disorders

ClinicalTrials.gov processed this record on May 06, 2009