Environmental Polymorphisms Registry
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.
|Official Title:||Environmental Polymorphism Registry (EPR)|
|Study Start Date:||November 2003|
We are establishing a large biorepository of frozen DNA samples (n=20,000) in which the DNAs are linked to the donor s identities, contact information, and some basic demographics through a personal identification number (PIN). The DNAs will be made available to investigators in coded form to anonymously screen for the presence of SNPs and other mutations by standard genotyping methods. Once subjects with the genotypes of interest have been identified, investigators can apply for re-identification of the samples and ask the same subjects to participate in follow-up phenotyping studies in a process known as phenotype-by-genotype.
To investigate the feasibility of this large project named the Environmental Polymorphism Registry (EPR), we first conducted a pilot study (Environmental Polymorphisms Study or EPS) at two University of North Carolina (UNC) Healthcare clinics. The goals of the EPS were to assess the willingness of outpatients to participate in a genetic study of this sort and identify potential problems that might arise when conducting the much larger 20,000-sample EPR. In the EPS, recruitment rates were high at both sites; 77% of patients approached while having their blood drawn for clinical testing agreed to participate by signing the informed consent form (ICF) and donating their leftover blood. Based on these results, we decided to proceed with the EPR. Since the EPS (pilot study) subjects and their samples have been incorporated into the larger EPR and will be used similarly, 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. Consent is administered during which participants are told that their specimens will be used for genetic screening projects, we will contact them annually to update contact information, and they may be recontacted to participate in voluntary follow-up studies. EPR participants will 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 lifestyle data. 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.
Please refer to this study by its ClinicalTrials.gov identifier: NCT00341237
|Contact: Shepherd H Schurman, M.D.||(919) email@example.com|
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike||Recruiting|
|Bethesda, Maryland, United States, 20892|
|United States, North Carolina|
|University of North Carolina||Recruiting|
|Chapel Hill, North Carolina, United States, 27599-7030|
|Rex UNC Health Care Center||Recruiting|
|Raleigh, North Carolina, United States, 27607|
|NIEHS Clinical Research Unit (CRU)||Recruiting|
|Research Triangle Park, North Carolina, United States|
|Contact: Stavros Garantziotis, M.D. 919-541-0985 firstname.lastname@example.org|
|Principal Investigator:||Shepherd H Schurman, M.D.||National Institute of Environmental Health Sciences (NIEHS)|