NCT00187733

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 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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
16

participants targeted

Target at below P25 for all trials

Timeline
Completed

Started Jan 2005

Typical duration for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

January 1, 2005

Completed
9 months until next milestone

First Submitted

Initial submission to the registry

September 14, 2005

Completed
2 days until next milestone

First Posted

Study publicly available on registry

September 16, 2005

Completed
2.4 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

February 1, 2008

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

February 1, 2008

Completed
Last Updated

September 13, 2012

Status Verified

September 1, 2012

Enrollment Period

3.1 years

First QC Date

September 14, 2005

Last Update Submit

September 11, 2012

Conditions

Carnitine Transporter Deficiency

Keywords

L-carnitine

Study Arms (1)

Fasting

Other: Fasting blood and urine collection

Other: Fasting blood and urine collection

Interventions

Fasting blood and urine collectionOTHER

Not applicable no drugs dispensed

Fasting

Eligibility Criteria

Age18 Years - 40 Years
Sexall
Healthy VolunteersYes
Age GroupsAdult (18-64)
Sampling MethodNon-Probability Sample
Study Population

Healthy individuals per screening laboratory results and health questionnaire

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.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

San Francisco General Hospital

San Francisco, California, 94143, United States

Location

Related Publications (1)

  • Urban TJ, Gallagher RC, Brown C, Castro RA, Lagpacan LL, Brett CM, Taylor TR, Carlson EJ, Ferrin TE, Burchard EG, Packman S, Giacomini KM. Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5). Mol Pharmacol. 2006 Nov;70(5):1602-11. doi: 10.1124/mol.106.028126. Epub 2006 Aug 24.

    PMID: 16931768RESULT

Biospecimen

Retention: SAMPLES WITH DNA

Blood Draw (10cc) to determine eligibility (CBC, blood chemistries). Blood draw (20cc) at t=0 in fasting state for baseline measurement of biochemical markers (including carnitine, acylcarnitines, creatinine, and total lipid panel) Urine collection at t=0 Blood draw (20cc) at t=2 hours for measurement of biochemical markers (including carnitine, acylcarnitines, creatinine, and total lipid panel) Urine collection at t=2 hours Transformation of blood to establish lymphoblastoid cell lines (from blood samples collected at t=0 and t=2 hours)

MeSH Terms

Conditions

Systemic carnitine deficiency

Interventions

Urine Specimen Collection

Intervention Hierarchy (Ancestors)

Specimen HandlingClinical Laboratory TechniquesDiagnostic Techniques and ProceduresDiagnosisInvestigative Techniques

Study Officials

  • Kathleen Giacomini, PhD

    University of California, San Francisco

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

September 14, 2005

First Posted

September 16, 2005

Study Start

January 1, 2005

Primary Completion

February 1, 2008

Study Completion

February 1, 2008

Last Updated

September 13, 2012

Record last verified: 2012-09

Locations

US(1)