Influence of OCTN2 Variants on Carnitine Status and Plasma Triglycerides

NCT00187733 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 16

Last updated 2012-09-13

No results posted yet for this study

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

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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Entities

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00187733 on ClinicalTrials.gov