ClinSeq: A Large-Scale Medical Sequencing Clinical Research Pilot Study
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|ClinicalTrials.gov Identifier: NCT00410241|
Recruitment Status : Recruiting
First Posted : December 12, 2006
Last Update Posted : September 20, 2018
This study will examine genome sequencing in clinical research. Genome sequencing is a process in which researchers analyze (or sequence) part or all of the genome from a single person. The human genome is the material in cells that includes thousands of genes. Gene changes that cause or contribute to disease can be passed on from one generation to the next. This study first focuses on heart disease. Later, researchers hope to study other conditions and genes, with the eventual goal of sequencing most or all of participants genes.
Participants ages 45 to 65 years of age and who do not smoke, may be eligible for this study. Patients will come to the NIH Clinical Research Center for an initial study to last about half a day. They will donate a blood sample and complete a short survey. Then they will meet the genetic counselor to learn more about genome sequencing. Those who join the study will undergo the following procedures and evaluations:
- Family history and medical history.
- Measurement of height and blood pressure.
- Noninvasive heart tests, including electrocardiogram and echocardiogram.
- Drawing of about 3 ounces of blood (5 to 6 tablespoons); part of the blood sample will be used for research and another part for clinical testing.
- Multidetector computed tomography (CT), a test to measure coronary artery calcification, that is, condition of inflexibility.
Each patient will receive a letter with results of the clinical laboratory values and evaluations. There will be recommendations for follow-up with the patient s doctors. Risks in this study include exposure to radiation from the CT test. The radiation amount used is about the same that a person normally receives from natural sources, such as from the sun, outer space, and radioactive materials found naturally in the earth s air and soil. Another slight risk involves reactions to a contrast agent that may be used in the echocardiogram. Side effects can be headache, nausea or vomiting, a warm sensation, and dizziness.
With the samples that patients provide, researchers will start by sequencing about 400 genes related to heart disease. Analysis will take months to complete. Genome sequencing is difficult to do, and researchers have much to learn about the genes they sequence and the gene changes they find. If the researchers find gene changes that are important to the health of a participant, they will contact that participant and give him/her the choice of learning such results.
This study may or may not have a direct benefit for participants. Patients would get free clinical testing for cholesterol, diabetes, and other conditions, as well as information about gene changes. Knowledge gained will benefit people in the future as researchers learn about the relationship between gene changes and health.
|Condition or disease|
|Healthy Volunteers Atherosclerotic Heart Disease|
Show Detailed Description
|Study Type :||Observational|
|Estimated Enrollment :||2000 participants|
|Official Title:||ClinSeq: A Large-Scale Medical Sequencing Clinical Research Pilot Study|
|Study Start Date :||December 8, 2006|
Self-referred individuals 45-65 at enrollment, 25% of whom had coronary artery disease
Individuals 45-65 at enrollment who self identified as African, African-American or Afro-Caribbean
Family members of Group A1 or A2 participants
- Recruit & consent cohort [ Time Frame: 2017 ]Developing methods for recruiting and consenting a large, racially-diverse cohort
- Improvement to algorithms for interpreting sequence data [ Time Frame: 2023 ]Continuing to improve upon existing algorithms for generating and interpreting sequence data
- Health behaviors, family communication and [ Time Frame: 2023 ]Determining the impacts of LSMS results on health behaviors, familycommunication and understanding
- Efficiency of result disclosure [ Time Frame: 2023 ]Piloting increasingly efficient models for returning LSMS results
- Offer cohort as resource [ Time Frame: 2023 ]Build and offer this cohort as a resource for addressing biomedical research questions including investigating the association of genomicvariants with traits and phenotypes.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00410241
|Contact: Katie L Lewis||(301) firstname.lastname@example.org|
|Contact: Leslie G Biesecker, M.D.||(301) email@example.com|
|United States, Maryland|
|Bethesda, Maryland, United States, 20814|
|National Institutes of Health Clinical Center, 9000 Rockville Pike||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) 800-411-1222 ext TTY8664111010 firstname.lastname@example.org|
|Principal Investigator:||Leslie G Biesecker, M.D.||National Human Genome Research Institute (NHGRI)|