NIEHS/UNC Environmental Polymorphism Study

This study has been completed.
Sponsor:
Information provided by:
National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:
NCT00340886
First received: June 19, 2006
Last updated: May 20, 2010
Last verified: May 2010
  Purpose

The Environmental Genome Project (EGP) has completely or partially resequenced the protein coding and regulatory regions of 53 environmentally sensitive genes from 72 anonymous individuals of varying ethnic backgrounds to date. Some of the same genes have been resequenced in an additional set of 20 samples, and, in a subset of these, the introns and promoter regions have been sequenced as well. Within this population, 523 allelic variants (genetic polymorphisms), mostly single nucleotide polymorphisms (SNPs), have been found to date. If the polymorphism alters the behavior or expression of the encoded protein, it might be of clinical significance.

The Office of Clinical Research is planning to establish a large resource bank of frozen DNA samples (20,000) and make it available to NIEHS intramural investigators involved in the EGP to screen for the presence of these SNPs and other mutations by standard genotyping methods. To investigate the feasibility of such a large collection of samples, we plan to first conduct a pilot study to estimate the accrual rate and uncover potential problems that may be encountered in the larger effort. This IRB proposal is for the pilot study in which we will collect whole blood samples (EDTA-anticoagulated) from 481 patients at UNC Medical Center. Once the pilot study is complete, we will decide whether to proceed with the larger, 20,000 sample collection and if so, develop and submit for review a new IRB protocol for its implementation taking date from the pilot study into account.

For both the pilot study and larger, 20,000 sample collection, only blood left over from patients already having their blood drawn for hematology (complete blood count or CBC) assays as part of their routine clinical management will be used, thus eliminating the need to collect extra blood. Once the samples have been obtained from the clinical hematology laboratory and processed, they will be identifiable only with a unique identification number and sent to an NIEHS contractor (BioServe Biotechnlolgies, Laurel, MD) for DNA isolation.

During recruitment, interviewers will explain the study to potential participants, obtain their signatures on the informed consent documents, and answer any questions they have concerning this study. At this time, potential participants will be informed that, depending on the results of the genetic analyses of their blood samples, they may be recontacted at a later date and asked to participate in follow-up genotype/phenotype studies. These follow-up studies will be separate from this protocol and the subjects of future IRB proposals. The ultimate objective of these sample collections, combined with the follow-up genotype/phenotype studies, is to identify groups of individuals with genetic polymorphisms in environmentally sensitive genes, and to correlate their genotype with their clinical phenotype, a process known as "ascertainment by genotype."


Condition
Genetic Polymorphisms

Study Type: Observational
Official Title: Environmental Polymorphism Study (EPS)

Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 485
Study Start Date: October 2001
Estimated Study Completion Date: May 2010
Detailed Description:

The Environmental Genome Project (EGP) has completely or partially resequenced the protein coding and regulatory regions of 53 environmentally sensitive genes from 72 anonymous individuals of varying ethnic backgrounds to date. Some of the same genes have been resequenced in an additional set of 20 samples, and, in a subset of these, the introns and promoter regions have been sequenced as well. Within this population, 523 allelic variants (genetic polymorphisms), mostly single nucleotide polymorphisms (SNPs), have been found to date. If the polymorphism alters the behavior or expression of the encoded protein, it might be of clinical significance.

The Program in Clinical Research is planning to establish a large resource bank of frozen DNA samples (20,000) and make it available to NIEHS intramural investigators involved in the EGP to screen for the presence of these SNPs and other mutations by standard genotyping methods. To investigate the feasibility of such a large collection of samples,

we plan to first conduct a pilot study to estimate the accrual rate and uncover potential problems that may be encountered in the larger effort. This IRB proposal is for the pilot study in which we will collect whole blood samples (EDTA-anticoagulated) from 481 patients at UNC Medical Center. Once the pilot study is complete, we will decide whether to proceed with the larger, 20,000 sample collection and if so, develop and submit for review a new IRB protocol for its implementation taking data from the pilot study into account.

For both the pilot study and larger, 20,000 sample collection, only blood left over from patients already having their blood drawn for hematology (complete blood count or CBC) and hemoglobin A1c (HbA1c) assays as part of their routine clinical management will be used, thus eliminating the need to collect extra blood. Once the samples have been obtained from the clinical laboratory and processed, they will be identifiable only with a unique identification number and sent to an NIEHS contractor (BioServe Biotechnlolgies, Laurel, MD) for DNA isolation.

During recruitment, interviewers will explain the study to potential participants, obtain their signatures on the informed consent documents, and answer any questions they have concerning this study. At this time, potential participants will be informed that, depending on the results of the genetic analyses of their blood samples, they may be recontacted at a later date and asked to participate in follow-up genotype/phenotype studies. These follow-up studies will be separate from this protocol and the subjects of future IRB proposals. The ultimate objective of these sample collections, combined with the follow-up genotype/phenotype studies, is to identify groups of individuals with genetic polymorphisms in environmentally sensitive genes, and to correlate their genotype with their clinical phenotype, a process known as "ascertainment by genotype."

  Eligibility

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria
  • INCLUSION CRITERIA:

Patients must be greater than or equal to 18 years of age and currently having their blood drawn for a CBC and/or a HbA1c assay.

There are no health status criteria for participating in this study; patients may be healthy or have preexisting conditions.

EXCLUSION CRITERIA:

Patients will not be excluded based on gender, ethnicity, race or religion.

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00340886

Locations
United States, North Carolina
University of North Carolina Medical Center
Chapel Hill, North Carolina, United States
Sponsors and Collaborators
  More Information

No publications provided

ClinicalTrials.gov Identifier: NCT00340886     History of Changes
Other Study ID Numbers: 999902004, 02-E-N004
Study First Received: June 19, 2006
Last Updated: May 20, 2010
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Genetic Susceptibility
Single Nucleotide Polymorphism
Environmental Risk Factor
Allelic Variants
Ascertainment by Genotype

ClinicalTrials.gov processed this record on August 01, 2014