Status:
COMPLETED
Influence of OCTN2 Variants on Carnitine Status and Plasma Triglycerides
Lead Sponsor:
University of California, San Francisco
Conditions:
Carnitine Transporter Deficiency
Eligibility:
All Genders
18-40 years
Brief 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 vol...
Detailed Description
Although OCTN2 is fairly well studied in its relationship with SCD, little is known about the carrier frequency of disease-causing alleles of OCTN2, or of more common functional polymorphisms in this ...
Eligibility Criteria
Inclusion
- 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).
Exclusion
- 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.
Key Trial Info
Start Date :
January 1 2005
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
February 1 2008
Estimated Enrollment :
16 Patients enrolled
Trial Details
Trial ID
NCT00187733
Start Date
January 1 2005
End Date
February 1 2008
Last Update
September 13 2012
Active Locations (1)
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1
San Francisco General Hospital
San Francisco, California, United States, 94143