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 19, 2020
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Tracking Information | |||||
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First Submitted Date | December 5, 2014 | ||||
First Posted Date | December 8, 2014 | ||||
Last Update Posted Date | November 19, 2020 | ||||
Actual Study Start Date | November 26, 2014 | ||||
Estimated Primary Completion Date | September 1, 2025 (Final data collection date for primary outcome measure) | ||||
Current Primary Outcome Measures |
Identify the gene(s) mutation (s) that causes rare cases of dyslipidemia [ Time Frame: Ongoing ] Discovery data
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Original Primary Outcome Measures |
Identify the gene(s) mutation (s) that causes rare cases of dyslipidemia [ Time Frame: 3 days to 50 years ] | ||||
Change History | |||||
Current Secondary Outcome Measures | Not Provided | ||||
Original Secondary Outcome Measures | Not Provided | ||||
Current Other Pre-specified Outcome Measures | Not Provided | ||||
Original Other Pre-specified Outcome Measures | Not Provided | ||||
Descriptive Information | |||||
Brief Title | Genes Involved in Lipid Disorders | ||||
Official Title | Genes Involved in Lipid Disorders | ||||
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:
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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 | ||||
Study Design | Observational Model: Family-Based Time Perspective: Prospective |
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Target Follow-Up Duration | Not Provided | ||||
Biospecimen | Not Provided | ||||
Sampling Method | Non-Probability Sample | ||||
Study Population | Entire population. | ||||
Condition | Lipid Disorders | ||||
Intervention | Not Provided | ||||
Study Groups/Cohorts | 1
Dyslipidemia patients
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Publications * |
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* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline. |
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Recruitment Information | |||||
Recruitment Status | Recruiting | ||||
Estimated Enrollment |
250 | ||||
Original Estimated Enrollment | Same as current | ||||
Estimated Study Completion Date | September 1, 2025 | ||||
Estimated Primary Completion Date | September 1, 2025 (Final data collection date for primary outcome measure) | ||||
Eligibility 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: greater than or equal to18 years older (Biological parent, aunt, uncle or grandparent) EXCLUSION CRITERIA:
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Sex/Gender |
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Ages | 2 Years to 99 Years (Child, Adult, Older Adult) | ||||
Accepts Healthy Volunteers | Yes | ||||
Contacts |
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Listed Location Countries | United States | ||||
Removed Location Countries | |||||
Administrative Information | |||||
NCT Number | NCT02311335 | ||||
Other Study ID Numbers | 150024 15-H-0024 |
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Has Data Monitoring Committee | Not Provided | ||||
U.S. FDA-regulated Product |
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IPD Sharing Statement | Not Provided | ||||
Responsible Party | National Institutes of Health Clinical Center (CC) ( National Heart, Lung, and Blood Institute (NHLBI) ) | ||||
Study Sponsor | National Heart, Lung, and Blood Institute (NHLBI) | ||||
Collaborators | Not Provided | ||||
Investigators |
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PRS Account | National Institutes of Health Clinical Center (CC) | ||||
Verification Date | November 16, 2020 |