Understanding the Genetic Basis of Familial Combined Hype... | NCT00365235

Studies
Understanding the Genetic Basis of Familial Combined Hyperlipidemia in Mexican Individuals

NCT00365235

Sponsor

University of California, Los Angeles

Status

Completed

Last Update Posted

Jan 12, 2012Estimated

Enrollment

998Actual

Phase

Not provided

Conditions

Hyperlipidemia, Familial Combined
Coronary Disease

Interventions

Not provided

Countries

Mexico

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

ID	Type	Description	Link
R01HL082762-01A1	U.S. NIH Grant/Contract		View source

Status Module

Record Verification Date

Jan 2012

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Jul 2006

Primary Completion Date

Jun 2011Actual

Completion Date

Jun 2011Actual

First Submitted Date

Aug 16, 2006

First Submission Date that Met QC Criteria

Aug 16, 2006

First Posted Date

Aug 17, 2006Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Jan 11, 2012

Last Update Posted Date

Jan 12, 2012Estimated

Sponsor/Collaborators Module

Responsible Party, by Official Title

Paivi Pajukanta, Professor, University of California, Los AngelesPrincipal Investigator

Lead Sponsor

University of California, Los AngelesOTHER

Collaborators

Name	Class
National Heart, Lung, and Blood Institute (NHLBI)	NIH

Description Module

Brief Summary

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.

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

998Actual

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Identifying the specific genes that predispose Mexican individuals to FCHL		Measured through the use of genetic samples

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility 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

Accepts Healthy Volunteers

Yes

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

10 Years

Maximum Age

80 Years

Standard Ages

ChildAdultOlder Adult

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

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Paivi E. Pajukanta, MD, PhD	David Geffen School of Medicine at UCLA, Department of Human Genetics	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Instituto Nacional De Ciencias Medicas y Nutricion		Mexico City		14000	Mexico

Condition Browse Module

MeSH Terms

ID	Term
D006950	Hyperlipidemia, Familial Combined
D003327	Coronary Disease

Ancestor Terms

ID	Term
D008052	Lipid Metabolism, Inborn Errors
D008661	Metabolism, Inborn Errors
D030342	Genetic Diseases, Inborn
D009358	Congenital, Hereditary, and Neonatal Diseases and Abnormalities

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