ClinSeq: A Large-Scale Medical Sequencing Clinical Research Pilot Study

This study is currently recruiting participants. (see Contacts and Locations)
Verified March 2016 by National Institutes of Health Clinical Center (CC)
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )
ClinicalTrials.gov Identifier:
NCT00410241
First received: December 9, 2006
Last updated: May 11, 2016
Last verified: March 2016
  Purpose

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
Cardiovascular Disease
Coronary Artery Calcification

Study Type: Observational
Official Title: ClinSeq: A Large-Scale Medical Sequencing Clinical Research Pilot Study

Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 2000
Study Start Date: December 2006
  Show Detailed Description

  Eligibility

Ages Eligible for Study:   45 Years to 65 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Criteria
  • INCLUSION CRITERIA:

Group A

We plan to recruit a cohort whose risk to develop coronary artery disease will range from less than 5 percent, based on the 10-year-risk provided by the Framingham risk score, to greater than 10 percent, and including those with known coronary artery disease. The 10-year-risk will be measured by the Framingham risk score based on LDL cholesterol levels.

Individuals eligible for Bins 1-3 of this study will be 45 to 65 years of age, and individuals eligible for Bin 4 must be 35-65 years of age. We selected this cutoff as we are interested in recruiting a cohort whose coronary artery calcification (CAC) measurements range from normal to diseased, and it has been shown that abnormal CAC is infrequent below this age. Also, individuals eligible for this study will be required to have a primary care physician or equivalent with whom we can communicate in the event we uncover a condition that merits follow-up. The exception to this includes individuals in Group A2 who are recruited through the community outreach being done by Ms. Sandra Epps. These individuals will not be required to have a primary care physician, although we will strongly recommend that they attend a community health clinic for follow-up on clinical recommendations from the study. Additionally, individuals eligible for this study will be required to be non-smokers at the time of enrollment, for our purposes defined as someone who has not smoked regularly during the previous 12 months.

Due to the large number of individuals to be recruited and the intention to follow this cohort longitudinally, we will focus our efforts on the metropolitan DC and Baltimore areas (in order to minimize reluctance to participate because of travel limitations). If recruitment is below anticipated levels, we may seek additional subjects from the Richmond, VA metropolitan area. Individuals who are not local to these areas may be considered for participation if they are part of other protocols within NHLBI, and travel to the NIH Clinical Research Center on a regular basis for follow-up, or if they are willing to travel to the NIH as needed for protocol participation (at their own expense). Bin 4 participants will be eligible to have the cost of their transportation, meals and lodging covered if they must travel > 500 miles for their clinical visits.

An eligibility screen will be performed by telephone to ascertain age, basic demographics, smoking history, and presence or absence of known cardiovascular disease. We intend to recruit persons of both sexes, of diverse ethnic and racial categories, and from various socio-economic backgrounds.

Group B

The eligibility for Group B is distinct from Group A. Group B eligibility requires:

  1. relative enrolled in Group A
  2. age over 18 years, unless the phenotype under study affects children

EXCLUSION CRITERIA:

Individual excluded from participating in the study include: (1) first-degree relatives of enrolled ClinSeq participants (unless they fall into Group B); and (2) individuals who are directly involved with gathering data and analyzing the clinical and genotyping data, including the Principal Investigator, the Associate Investigators, the ClinSeq staff involved with the subjects at the clinical level (such as the Nurse Practitioner, Genetic counselor, etc.), and the staff at NISC involved with generating and analyzing the sequence data ; and (3) individuals who request access to their raw sequence data for analysis outside of ClinSeq ; and (4) individuals who are already enrolled in another study that provides genome or exome sequencing, such as the GENE-FORECAST Study (14-HG-0048).

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00410241

Contacts
Contact: Katie L Lewis (301) 594-3063 katie.lewis2@nih.gov
Contact: Leslie G Biesecker, M.D. (301) 402-2041 lesb@mail.nih.gov

Locations
United States, Maryland
Suburban Hospital Recruiting
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 Patient Recruitment and Public Liaison Office (PRPL)    800-411-1222 ext TTY8664111010    prpl@mail.cc.nih.gov   
Sponsors and Collaborators
National Human Genome Research Institute (NHGRI)
Investigators
Principal Investigator: Leslie G Biesecker, M.D. National Human Genome Research Institute (NHGRI)
  More Information

Additional Information:
Publications:
Responsible Party: National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )
ClinicalTrials.gov Identifier: NCT00410241     History of Changes
Other Study ID Numbers: 070002  07-HG-0002 
Study First Received: December 9, 2006
Last Updated: May 11, 2016
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Genome
Cardiovascular Disease
Volunteers
Genes
Atherosclerosis
Coronary Artery Calcification
Cardiovascular

Additional relevant MeSH terms:
Cardiovascular Diseases
Coronary Artery Disease
Arterial Occlusive Diseases
Calcium Metabolism Disorders
Coronary Disease
Heart Diseases
Metabolic Diseases
Myocardial Ischemia
Vascular Diseases
Arteriosclerosis
Calcinosis

ClinicalTrials.gov processed this record on May 24, 2016