Environmental Polymorphisms Registry
|First Received Date ICMJE||June 19, 2006|
|Last Updated Date||November 27, 2013|
|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 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 subjects will be recruited from North Carolina from the NIEHS Clinical Research Unit (CRU), various healthcare clinics, and the general public. The latter includes university campuses, health fairs, study drives held at various locations (corporations, community centers, community events, etc.) and the EPR website. Subjects will be asked to donate blood for DNA isolation and archiving. They will go through an extensive ICF process in which they are told about the uncertain uses of their samples in genetic screening projects and the possibility of being recontacted for voluntary follow-up studies.
|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 Group/Cohort (s)||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||
The only exclusion criteria is age. Participants must be greater than or equal to 18 years of age. Otherwise, there are no health status criteria for participating in this study; participants may be healthy or have preexisting conditions.
Participants will not be excluded based on gender, ethnicity, race or religion.
|Ages||18 Years and older|
|Accepts Healthy Volunteers||Yes|
|Location Countries ICMJE||United States|
|NCT Number ICMJE||NCT00341237|
|Other Study ID Numbers ICMJE||040053, 04-E-0053|
|Has Data Monitoring Committee||Not Provided|
|Responsible Party||Not Provided|
|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||September 2013|
ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP