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NIEHS/UNC Environmental Polymorphism Study

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ClinicalTrials.gov Identifier: NCT00340886
Recruitment Status : Completed
First Posted : June 21, 2006
Last Update Posted : July 2, 2017
Sponsor:
Information provided by:

Study Description
Brief Summary:

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 or disease
Genetic Polymorphisms

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."


Study Design

Study Type : Observational
Estimated Enrollment : 485 participants
Official Title: Environmental Polymorphism Study (EPS)
Study Start Date : October 1, 2001
Estimated Study Completion Date : May 19, 2010
Groups and Cohorts


Outcome Measures

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00340886


Locations
United States, North Carolina
University of North Carolina Medical Center
Chapel Hill, North Carolina, United States
Sponsors and Collaborators
National Institute of Environmental Health Sciences (NIEHS)
More Information

ClinicalTrials.gov Identifier: NCT00340886     History of Changes
Other Study ID Numbers: 999902004
02-E-N004
First Posted: June 21, 2006    Key Record Dates
Last Update Posted: July 2, 2017
Last Verified: May 19, 2010

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