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Genes Involved in Lipid Disorders

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ClinicalTrials.gov Identifier: NCT02311335
Recruitment Status : Recruiting
First Posted : December 8, 2014
Last Update Posted : November 28, 2017
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Heart, Lung, and Blood Institute (NHLBI) )

Brief Summary:

Background:

- Genes are the instructions our body uses to function. Researchers can look for changes, or variants, in the genes. The goal of this study is to find new gene changes that lead to lipid disorders. Older research methods looked at one or a few genes at a time. Genomic sequencing looks at most of the genes at once. Genomic sequencing may find the cause researchers haven t been able to find from past methods.

Objectives:

- To better understand genetic causes of lipid disorders through genomic sequencing.

Eligibility:

- People age 2 and older with unusual lipid disorders, and their relatives.

Design:

  • Participants will be screened with a physical exam and medical history. They will have blood taken. They may give a saliva sample.
  • Based on the screening test, researchers will chose 3 5 family members to perform the genomic sequencing. The sequencing will be done on a sample of DNA collected during the blood draw and saliva sample.
  • Participants may be invited to take part in other protocols that may involve imaging of their heart or blood vessels. They do not have to participate. If they do, they will sign a separate consent for those tests.
  • If a participant s family member cannot travel to the NIH, the NIH documents and consent will be reviewed during a teleconference. A blood or sputum kit will be mailed to them.

Condition or disease
Dyslipidemia

Detailed Description:
The primary purpose of this discovery protocol is to identify new lipid genes from subjects with rare genetic lipids disorders. We will take advantage of the new technology of whole exome sequencing to find the cause of dyslipidemia that we haven t been able to find using past methods. We will work with geneticists to review the sequence data for unexpected gene changes (incidental findings) that do not explain the lipid disorder but gene changes that can cause medical disorders such as rare forms of cancer or heart disease. The opportunity to participate in the Clinical Center Genomics Opportunity (CCGO) program will enable us to take advantage of our expertise in other rare lipid disorders and translate this knowledge into new diagnostics and therapies, which is a key mission of the NIH.

Study Type : Observational
Estimated Enrollment : 250 participants
Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Genes Involved in Lipid Disorders
Study Start Date : December 5, 2014
Estimated Primary Completion Date : September 1, 2025
Estimated Study Completion Date : September 1, 2025

Resource links provided by the National Library of Medicine





Primary Outcome Measures :
  1. Identify the gene(s) mutation(s) that causes rare cases of dyslipidemia [ Time Frame: 3 days to 50 years ]


Information from the National Library of Medicine

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Ages Eligible for Study:   2 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria
  • INCLUSION CRITERIA:

Index cases to be included are those with unusual dyslipidemia. Relatives of affected individuals may also be included as appropriate.

Child Index: greater than or equal to 2 years older

Adult Index: greater than or equal to18 years older

Child relatives (siblings, cousins): greater than or equal to 2 years older

Adult Relative: <TAB>greater than or equal to18 years older

(Biological parent, aunt, uncle or grandparent)

EXCLUSION CRITERIA:

  1. Inability or unwillingness to provide informed consent or assent
  2. Prisoners or other institutionalized persons will not be allowed to participate.
  3. Children <2 years of age.

Information from the National Library of Medicine

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): NCT02311335


Contacts
Contact: Robert D Shamburek, M.D. (301) 496-3460 bobs@mail.nih.gov

Locations
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Heart, Lung, and Blood Institute (NHLBI)
Investigators
Principal Investigator: Robert D Shamburek, M.D. National Heart, Lung, and Blood Institute (NHLBI)

Additional Information:
Publications:
Responsible Party: National Heart, Lung, and Blood Institute (NHLBI)
ClinicalTrials.gov Identifier: NCT02311335     History of Changes
Other Study ID Numbers: 150024
15-H-0024
First Posted: December 8, 2014    Key Record Dates
Last Update Posted: November 28, 2017
Last Verified: November 24, 2017

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Heart, Lung, and Blood Institute (NHLBI) ):
Hypertriglyceridemia
Atherosclerosis
Genectic Variants
Hyperalphalipoproteinemia
Dyslipidemia

Additional relevant MeSH terms:
Dyslipidemias
Lipid Metabolism Disorders
Metabolic Diseases