Ignite Creation Date:
2024-05-05 @ 4:54 PM
Last Modification Date:
2024-10-26 @ 9:25 AM
Study NCT ID:
NCT00341237
Status:
RECRUITING
Last Update Posted:
2024-07-15
First Post:
2006-06-19
Brief Title:
Personalized Environment and Genes Study
Sponsor:
National Institute of Environmental Health Sciences NIEHS
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Personalized Environment and Genes Study
Status:
RECRUITING
Status Verified Date:
2024-10-18
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:
Despite the overwhelming focus on genetic and genomic causes of human disease over the past two decades it has been estimated that genetics is currently known to explain only 20 and 40 of the etiology of common disease Thus it is becoming increasingly apparent that human disease is a consequence of both genetic susceptibility and environmental exposures Importantly while individuals cannot change their genetic composition we do have the ability both personally and as a society to influence our environment promoting health and decreasing the risk of disease The Personalized Environment and Genes Study PEGS aims to determine how the environment and gene-environment interactions can inform our understanding of human health and disease As science has evolved so too has the science of this project This evolution was reflected in a change in the title of this project from the Environmental Polymorphisms Registry EPR to the Personalized Environment and Genes Study PEGS to more accurately reflect the science that can be conducted PEGS is a unique resource because of the depth of environmental phenotyping which includes extensive information from exposome surveys as well as whole genome sequencing on a significant number of participants in the cohort While it is small relative to genomic cohorts none of these have the extensive environmental data that is present in PEGS In addition other cohorts with deep environmental data lack the depth of genomic data that is present in PEGS Importantly PEGS has already provided important analytic advances that are of great interest to and can be confirmed in larger cohorts such as All of Us
The Personalized Environment and Genes Study PEGS aims to provide a resource for environmental health translational research by examining gene-environment interactions in health and disease PEGS is an extension of two previous efforts where it began as a pilot study the Environmental Polymorphisms Study EPS IRB 02E9004 and was approved subsequently as a full protocol titled the Environmental Polymorphisms Registry EPR IRB 04-E-N0053 and transitioned to its current ID 04-E-0053 The EPR was envisioned as a phenotype-by-genotype registry of participants who had donated DNA samples and who had agreed to be contacted for follow-up clinical translational studies based on their DNA genotypes At the time the only information available was a participant s age sex race and ethnicity Further phenotyping of a participant andor any biospecimens obtained were investigated during a follow-up translational clinical study on participants recruited based on their genotype hence phenotype-by-genotype and the PEGS was the first recruit-by- genotype study at the NIH Following a period focused on recruiting approximately 15000 participants to enable genotyping of rare approximately 1 minor allele frequency single nucleotide polymorphisms SNPs the PEGS Consortium Project was undertaken in 2010- 2011 to examine using the DNA of nearly 4000 participants approximately 700 SNPs in approximately 80 environmental response genes that work in concert with environmental exposures to elicit a phenotype Several clinical follow-up studies genotype-phenotype association studies and publications have resulted from the PEGS Consortium Project
To expand phenotype information available to researchers the Health and Exposure Questionnaire was administered between 2013-2014 In 2017 a more detailed Exposome Questionnaire which includes questions relating to the external and internal exposome was administered This was an important resource through which to integrate exposures with genotype-phenotype association studies
Whole genome sequencing has now been performed on approximately 4700 participants who were reconsented for this purpose as indicated above Questionnaire data was fully adjudicated and combined in a robust and searchable database With the increased power of the data available the project was renamed as the Personalized Environment and Genes Study PEGS and rolled out in Sept 2021
The Personalized Environment and Genes Study PEGS aims to provide a resource for environmental health translational research by examining gene-environment interactions in health and disease PEGS is an extension of two previous efforts where it began as a pilot study the Environmental Polymorphisms Study EPS IRB 02E9004 and was approved subsequently as a full protocol titled the Environmental Polymorphisms Registry EPR IRB 04-E-N0053 and transitioned to its current ID 04-E-0053 The EPR was envisioned as a phenotype-by-genotype registry of participants who had donated DNA samples and who had agreed to be contacted for follow-up clinical translational studies based on their DNA genotypes At the time the only information available was a participant s age sex race and ethnicity Further phenotyping of a participant andor any biospecimens obtained were investigated during a follow-up translational clinical study on participants recruited based on their genotype hence phenotype-by-genotype and the PEGS was the first recruit-by- genotype study at the NIH Following a period focused on recruiting approximately 15000 participants to enable genotyping of rare approximately 1 minor allele frequency single nucleotide polymorphisms SNPs the PEGS Consortium Project was undertaken in 2010- 2011 to examine using the DNA of nearly 4000 participants approximately 700 SNPs in approximately 80 environmental response genes that work in concert with environmental exposures to elicit a phenotype Several clinical follow-up studies genotype-phenotype association studies and publications have resulted from the PEGS Consortium Project
To expand phenotype information available to researchers the Health and Exposure Questionnaire was administered between 2013-2014 In 2017 a more detailed Exposome Questionnaire which includes questions relating to the external and internal exposome was administered This was an important resource through which to integrate exposures with genotype-phenotype association studies
Whole genome sequencing has now been performed on approximately 4700 participants who were reconsented for this purpose as indicated above Questionnaire data was fully adjudicated and combined in a robust and searchable database With the increased power of the data available the project was renamed as the Personalized Environment and Genes Study PEGS and rolled out in Sept 2021
Detailed Description:
Study Description The Personalized Environment and Genes Study PEGS integrates genetic and environmental data to understand disease etiology identify disease risk factors and improve disease prevention
Objectives The objective of PEGS is to provide a resource for environmental health translational research by examining environment and gene-environment interactions in health and disease PEGS will incorporate exposure and health information with or without genomic information to address the following objectives
Primary Objective To uncover novel environmental risk factors for the most prevalent health conditions and diseases
Secondary Objective To use an environmental precision medicine framework to uncover genetic susceptibilities to specific environmental exposures that can ultimately be used to provide a fuller understanding of individual risks for diseases
Endpoints
Primary Endpoints
1 Dichotomous phenotype multiple analyses each analysis is focused on a single dichotomous phenotype of clinical interest
or a group of mechanistically related dichotomous phenotypes Example asthma
2 Continuous phenotype multiple analyses each analysis is focused on a clinically relevant continuous phenotype Example FEV1 an indicator of asthma severity
Secondary Endpoints
1 Phenome simultaneous assessment of all clinically relevant phenotypes
2 Exposome
Objectives The objective of PEGS is to provide a resource for environmental health translational research by examining environment and gene-environment interactions in health and disease PEGS will incorporate exposure and health information with or without genomic information to address the following objectives
Primary Objective To uncover novel environmental risk factors for the most prevalent health conditions and diseases
Secondary Objective To use an environmental precision medicine framework to uncover genetic susceptibilities to specific environmental exposures that can ultimately be used to provide a fuller understanding of individual risks for diseases
Endpoints
Primary Endpoints
1 Dichotomous phenotype multiple analyses each analysis is focused on a single dichotomous phenotype of clinical interest
or a group of mechanistically related dichotomous phenotypes Example asthma
2 Continuous phenotype multiple analyses each analysis is focused on a clinically relevant continuous phenotype Example FEV1 an indicator of asthma severity
Secondary Endpoints
1 Phenome simultaneous assessment of all clinically relevant phenotypes
2 Exposome
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
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 |
|---|---|---|---|
| 04-E-0053 | None | None | None |