Ignite Creation Date:
2024-05-05 @ 4:56 PM
Last Modification Date:
2024-10-26 @ 9:25 AM
Study NCT ID:
NCT00340886
Status:
COMPLETED
Last Update Posted:
2017-07-02
First Post:
2006-06-19
Brief Title:
NIEHSUNC Environmental Polymorphism Study
Sponsor:
National Institute of Environmental Health Sciences NIEHS
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Environmental Polymorphism Study EPS
Status:
COMPLETED
Status Verified Date:
2010-05-19
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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 20000 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 20000 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 20000 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 genotypephenotype 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 genotypephenotype 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
The Office of Clinical Research is planning to establish a large resource bank of frozen DNA samples 20000 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 20000 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 20000 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 genotypephenotype 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 genotypephenotype 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
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 20000 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 20000 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 20000 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 genotypephenotype 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 genotypephenotype 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
The Program in Clinical Research is planning to establish a large resource bank of frozen DNA samples 20000 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 20000 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 20000 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 genotypephenotype 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 genotypephenotype 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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 02-E-N004 | None | None | None |