Environmental Polymorphisms Registry
|First Received Date ICMJE||June 19, 2006|
|Last Updated Date||October 15, 2016|
|Start Date ICMJE||November 2003|
|Primary Completion Date||Not Provided|
|Current Primary Outcome Measures ICMJE||Not Provided|
|Original Primary Outcome Measures ICMJE||Not Provided|
|Change History||Complete list of historical versions of study NCT00341237 on ClinicalTrials.gov Archive Site|
|Current Secondary Outcome Measures ICMJE||Not Provided|
|Original Secondary Outcome Measures ICMJE||Not Provided|
|Current Other Outcome Measures ICMJE||Not Provided|
|Original Other Outcome Measures ICMJE||Not Provided|
|Brief Title ICMJE||Environmental Polymorphisms Registry|
|Official Title ICMJE||Environmental Polymorphism Registry (EPR)|
This study conducted by the NIEHS and the University of North Carolina Medical Center will create and maintain a biorespository containing the genetic material (DNA) from up to 20,000 individuals recruited from North Carolina. These samples will allow scientists to look for differences in each individual s DNA. These differences are not known to be associated with any condition or disease to date, but the purpose of the study is test these differences for possible susceptibility to (or protection to) common conditions such as asthma, cardiovascular disease, cancer and many others. Many of the differences to be studied are in environmental response genes. These genes determine the various ways humans respond to toxic substances in the environment, their diet and lifestyles (e.g. no exercise vs. exercise), and exposures to other substances, e.g. therapeutics.
Participants will be recruited from the general NC population through health fairs, studies drives at community venues and corporations, and from out patient clinics within the University of North Carolina health care system. Participants can also visit one of two locations in the Research Triangle area to volunteer for this study. All participants will be asked to provide a blood sample and some basic information on their gender, race and ethnicity, and will be compensated for their time by receiving $20.
DNA will be extracted from the blood, encrypted with a secret identification number, and placed in the registry's biorepository. The registry will exist for up to 25 years. During that time, the DNAs will be available to researchers to look for the differences in the DNAs as described above. Participants who have certain differences might be asked to participate in a future study of people with the same DNA differences. The future studies will most likely involve filling out a questionnaire or participating in a telephone survey, but may involve being interviewed or having a physical examination or laboratory evaluation, including blood tests. Participants will be asked to update their contact information once a year for up to 25 years.
We are establishing a registry-based cohort and repository of biological (e.g. blood, urine,saliva, etc.) and environmental (e.g. household dust) specimens (approximately 20,000 participants) in which the donated specimens are linked to the donor s identities, contact information, and some basic demographics through a personal identification number (PIN). Specimens are available to investigators in coded form to anonymously screen for the presence of single-nucleotide polymorphisms (SNPs) and other mutations in DNA, by using standard genotyping methods as well as whole genome sequencing (WGS) or whole exome sequencing (WES), and differences in hormones, dietary factors, and/or chemicals or toxins in the blood or urine. Once participants with the genotypes of interest have been identified, investigators can apply for re-identification of the specimens and ask the same participants to participate in follow-up phenotyping studies in a process known as phenotype-by-genotype. Participants may also be selected to participate in follow-up studies based upon differences in other biological (e.g. urine, saliva, etc.) or environmental (e.g. household dust) specimens, exposure or disease states of interest through assessment of family history of disease, occupational, socioeconomic status, and lifestyle data collected by various health and exposure surveys. As surveys are implemented, data from these surveys will be used to identify participants for participation in follow-up studies based upon genotype, exposure, and disease states.
To investigate the feasibility of establishing this cohort, named the Environmental Polymorphisms Registry (EPR), we conducted a pilot study (Environmental Polymorphisms Study or EPS) at two University of North Carolina (UNC) Healthcare clinics, (February-August 2001). The EPS assessed the willingness of outpatients to participate in a genetic study of this sort and identified potential problems that might arise when enrolling a much larger 20,000- participant registry (EPR). Recruitment rates were high, with 77% of patients approached enrolling in the registry. Based on these results, we decided to proceed with recruitment for the EPR. EPS participants and their specimens were incorporated into the larger EPR and the EPS and EPR protocols were merged into this one protocol.
EPR participants are recruited from and enrolled at the NIEHS Clinical Research Unit (CRU), National Institutes of Health (NIH) Clinical Center, various healthcare clinics, and from the general public. The latter includes university campuses, health fairs, study drives held at various locations (e.g., corporations, community centers, community events, etc.) and the EPR website. Participants are asked to donate blood for DNA isolation and archiving. Participants may also be asked to donate other biological and environmental specimens for researchers to investigate whether there are significant changes in their genetic material, hormones, dietary factors, and/or chemicals or toxins in their blood or urine. Consent is administered during which participants are told that their specimens will be used for genetic and biochemical screening projects, we will contact them annually to update contact information, and they may be recontacted to participate in voluntary follow-up studies or donate additional specimens. EPR participants may also be given the opportunity to complete the EPR Health and Exposure Survey, in order to collect health, family history of disease, environmental exposure, socioeconomic status, and lifestyledata. Information collected in the survey will be used to better characterize the EPR population, making it more useful in answering research questions related to gene environment interactions. Participants may be contacted to participate in follow-up studies based upon the data collected by the survey.
|Study Type ICMJE||Observational|
|Study Design ICMJE||Not Provided|
|Target Follow-Up Duration||Not Provided|
|Sampling Method||Not Provided|
|Study Population||Not Provided|
|Intervention ICMJE||Not Provided|
|Study Groups/Cohorts||Not Provided|
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
|Recruitment Status ICMJE||Recruiting|
|Estimated Enrollment ICMJE||20000|
|Completion Date||Not Provided|
|Primary Completion Date||Not Provided|
|Eligibility Criteria ICMJE||
assent (minors) to participate.
There are no other inclusion or exclusion criteria.
|Ages||8 Years and older (Child, Adult, Senior)|
|Accepts Healthy Volunteers||Yes|
|Listed Location Countries ICMJE||United States|
|Removed Location Countries|
|NCT Number ICMJE||NCT00341237|
|Other Study ID Numbers ICMJE||040053, 04-E-0053|
|Has Data Monitoring Committee||Not Provided|
|U.S. FDA-regulated Product||Not Provided|
|Plan to Share Data||Not Provided|
|IPD Description||Not Provided|
|Responsible Party||National Institute of Environmental Health Sciences (NIEHS)|
|Study Sponsor ICMJE||National Institute of Environmental Health Sciences (NIEHS)|
|Collaborators ICMJE||Not Provided|
|Information Provided By||National Institutes of Health Clinical Center (CC)|
|Verification Date||October 2016|
ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP