An observational study in Lipid Disorders, sponsored by National Heart, Lung, and Blood Institute (NHLBI). Completed at 1 site in United States. Open to participants aged 2 Years to 99 Years. Per ClinicalTrials.gov, last updated 2026-11-09.
Sponsored by National Heart, Lung, and Blood Institute (NHLBI) · Observational
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:
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.
177 studies on the registry are indexed under Lipid Metabolism Disorders; 36 are open to participants now.
This study's enrollment of 140 is close to the median of 145 across 42 observational studies indexed under Lipid Metabolism Disorders.
Browse Lipid Metabolism Disorders studies →National Heart, Lung, and Blood Institute (NHLBI) is the lead sponsor of 1,143 studies on the registry; 71 are open to participants now.
Of its 58 completed or terminated interventional studies of FDA-regulated products, 51 (88%) have results posted.
Counted across the registry records on this site, refreshed daily.
Entire population.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
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:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Dyslipidemia patients
Identify the gene(s) mutation (s) that causes rare cases of dyslipidemia
Discovery data
Time frame: Ongoing
Plan to share: No — The plan was not to share information because the groups were too small according to the rules and the information could lead to the identity of the subjects.
Ran from Nov 2014 to primary completion in Sep 2021, 81 months.
How these figures are worked out, and which studies are left out of them.
This study is completed, as verified in Apr 2026. You cannot join it, but the record below documents what was studied.
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National Heart, Lung, and Blood Institute (NHLBI) →