Ignite Creation Date:
2025-12-24 @ 10:36 PM
Ignite Modification Date:
2026-01-04 @ 4:59 PM
Study NCT ID:
NCT02311335
Status:
COMPLETED
Last Update Posted:
2025-12-24
First Post:
2014-12-05
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Genes Involved in Lipid Disorders
Sponsor:
National Heart, Lung, and Blood Institute (NHLBI)
Organization:
Study Overview
Official Title:
Genes Involved in Lipid Disorders
Status:
COMPLETED
Status Verified Date:
2025-06-23
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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.
\- 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.
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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
Secondary ID Infos
| Secondary ID | Type | Domain | Link | View |
|---|---|---|---|---|
| 15-H-0024 | None | None | View |