Influence of OCTN2 Variants on Carnitine Status and Plasma Triglycerides
NCT00187733 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 16
Last updated 2012-09-13
Summary
The current study is part of a large multi-investigator grant to look at the pharmacogenetics of a number of membrane transporters. Previously, the investigators have recruited a cohort of healthy volunteers (Studies of Pharmacogenetics in Ethnically-Diverse Populations, or SOPHIE) and have resequenced the coding region of a number of membrane transporter genes to identify genetic polymorphisms in these genes. Subjects in this cohort have agreed to be called back for recruitment in further studies based on their own genetic sequence, allowing the investigators the possibility to prospectively study the influence of genetic polymorphisms on particular phenotypes (i.e., genotype-to-phenotype studies). The investigators plan to take a genotype-to-phenotype approach to study the influence of specific polymorphisms in the novel organic cation transporter 2 (OCTN2) gene on carnitine and lipid metabolism in healthy subjects.
Conditions
- Carnitine Transporter Deficiency
Interventions
- OTHER
-
Fasting blood and urine collection
Not applicable no drugs dispensed
Sponsors & Collaborators
-
University of California, San Francisco
lead OTHER
Principal Investigators
-
Kathleen Giacomini, PhD · University of California, San Francisco
Eligibility
- Min Age
- 18 Years
- Max Age
- 40 Years
- Sex
- ALL
- Healthy Volunteers
- Yes
Timeline & Regulatory
- Start
- 2005-01-31
- Primary Completion
- 2008-02-29
- Completion
- 2008-02-29
Countries
- United States
Study Locations
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