Influence of OCTN2 Variants on Carnitine Status and Plasma Triglycerides
Completed
Conditions studied: Carnitine Transporter Deficiency
In brief
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.
Key facts
- Study ID
- NCT00187733
- Run by
- University of California, San Francisco
- People needed
- 16
- Starts
- 2005-01-01
- Expected to finish
- 2008-02-01
- Last updated by the study team
- 2012-09-13
Who can join
Age: 18 and older, up to 40. Sex: any. Healthy volunteers: accepted.
You may qualify if…
- Previous participation in the "SOPHIE" study
- Between the ages of 18 and 40 years old
- Have a pre-selected genotype for OCTN1 and OCTN2
- Have been selected as healthy by medical history questionnaire and screening blood work (complete blood count [CBC], comprehensive metabolic panel).
You may not qualify if…
- Pregnant at the time of the study
- Have a new history indicating they are no longer healthy
- Taking a medication that could confound study results
- Individuals with anemia (hemoglobin < 12 g/dL), an elevation in liver enzymes to higher than double the respective normal value, or elevated creatinine concentrations (males ≥ 1.5 mg/dL, females ≥ 1.4 mg/dL).
- Do not consent to participate in the study.
Where it is running
- San Francisco General Hospital — San Francisco, California, United States
Full record on ClinicalTrials.gov
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