Lipid DisordersNCT02311335
Genes Involved in Lipid Disorders
An observational study of Lipid Disorders, run by National Heart, Lung, and Blood Institute (NHLBI) at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 2 to 99 years
- Conditions the study is for
- Lipid Disorders
- How many people
- 140 participants
- Where
- 1 siteUnited States
- Study dates
- 26 Nov 2014to 2 Sep 2021
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 to 99 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Entire population.
Who may be able to join
- 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)
Who cannot join
- Inability or unwillingness to provide informed consent or assent
- Prisoners or other institutionalized persons will not be allowed to participate.
- Children <2 years of age.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
About this study
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.
Read more
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.
Read the 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.
- Conditions
- Lipid Disorders
- Keywords
- Hypertriglyceridemia, Atherosclerosis, Genectic Variants, Hyperalphalipoproteinemia, Dyslipidemia, Natural History
- Medical subject headings
- Lipid Metabolism Disorders, Hypertriglyceridemia, Atherosclerosis, Cholesteryl Ester Transfer Protein Deficiency, Dyslipidemias
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 1 | Dyslipidemia patients |
What is being measured
The primary outcome is the main question the study is designed to answer.
Identify the gene(s) mutation (s) that causes rare cases of dyslipidemia
Discovery data
Measured: Ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Dec 2014 (estimated)
- Study start26 Nov 2014
- Primary completion2 Sep 2021
- Study completion2 Sep 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Lipid DisordersStudies of the same condition, open and under way.
- More trials run by National Heart, Lung, and Blood Institute (NHLBI)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Prospective
- Enrolment
- 140 participants (actual)
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Robert D Shamburek, M.D., Principal investigator, National Heart, Lung, and Blood Institute (NHLBI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02311335
- Sponsor's protocol ID
- 150024
- Other IDs
- 15-H-0024
- Status last verified
- 17 Apr 2026
- First submitted
- 5 Dec 2014
- Last updated
- 8 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- 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.
Publications
Miller WG, Myers GL, Sakurabayashi I, Bachmann LM, Caudill SP, Dziekonski A, Edwards S, Kimberly MM, Korzun WJ, Leary ET, Nakajima K, Nakamura M, Nilsson G, Shamburek RD, Vetrovec GW, Warnick GR, Remaley AT. Seven direct methods for measuring HDL and LDL cholesterol compared with ultracentrifugation reference measurement procedures. Clin Chem. 2010 Jun;56(6):977-86. doi: 10.1373/clinchem.2009.142810. Epub 2010 Apr 8.
PubMed 20378768Oliveira MJ, van Deventer HE, Bachmann LM, Warnick GR, Nakajima K, Nakamura M, Sakurabayashi I, Kimberly MM, Shamburek RD, Korzun WJ, Myers GL, Miller WG, Remaley AT. Evaluation of four different equations for calculating LDL-C with eight different direct HDL-C assays. Clin Chim Acta. 2013 Aug 23;423:135-40. doi: 10.1016/j.cca.2013.04.009. Epub 2013 Apr 27.
PubMed 23628525Biesecker LG, Mullikin JC, Facio FM, Turner C, Cherukuri PF, Blakesley RW, Bouffard GG, Chines PS, Cruz P, Hansen NF, Teer JK, Maskeri B, Young AC; NISC Comparative Sequencing Program; Manolio TA, Wilson AF, Finkel T, Hwang P, Arai A, Remaley AT, Sachdev V, Shamburek R, Cannon RO, Green ED. The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine. Genome Res. 2009 Sep;19(9):1665-74. doi: 10.1101/gr.092841.109. Epub 2009 Jul 14.
PubMed 19602640
Study at a glance
From the registry record, last updated by the sponsor on 8 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genes Involved in Lipid Disorders
- ClinicalTrials.gov ID
- NCT02311335
- Acronym / sponsor ID
- 150024
- Conditions
- Lipid Disorders
- Keywords
- Hypertriglyceridemia, Atherosclerosis, Genectic Variants, Hyperalphalipoproteinemia, Dyslipidemia, Natural History
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 140 participants (actual)
- Lead sponsor
- National Heart, Lung, and Blood Institute (NHLBI)US National Institutes of Health
- Study start
- 26 Nov 2014 (actual)
- Primary completion
- 2 Sep 2021 (actual)
- Study completion
- 2 Sep 2021 (actual)
- First posted
- 8 Dec 2014 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Observational model
- Family based
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 1 | – | –Dyslipidemia patients |
Who may qualify
- Ages
- 2 to 99 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Entire population.
Key inclusion criteria (6 listed)
- 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
Key exclusion criteria (3 listed)
- Inability or unwillingness to provide informed consent or assent
- Prisoners or other institutionalized persons will not be allowed to participate.
- Children <2 years of age.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Identify the gene(s) mutation (s) that causes rare cases of dyslipidemia
Time frame: Ongoing
Discovery data
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Oct 2026.
- Background: PubMed 20378768Miller WG, Myers GL, Sakurabayashi I, Bachmann LM, Caudill SP, Dziekonski A, Edwards S, Kimberly MM, Korzun WJ, Leary ET, Nakajima K, Nakamura M, Nilsson G, Shamburek RD, Vetrovec GW, Warnick GR, Remaley AT. Seven direct methods for measuring HDL and LDL cholesterol compared with ultracentrifugation reference measurement procedures. Clin Chem. 2010 Jun;56(6):977-86. doi: 10.1373/clinchem.2009.142810. Epub 2010 Apr 8.
- Background: PubMed 23628525Oliveira MJ, van Deventer HE, Bachmann LM, Warnick GR, Nakajima K, Nakamura M, Sakurabayashi I, Kimberly MM, Shamburek RD, Korzun WJ, Myers GL, Miller WG, Remaley AT. Evaluation of four different equations for calculating LDL-C with eight different direct HDL-C assays. Clin Chim Acta. 2013 Aug 23;423:135-40. doi: 10.1016/j.cca.2013.04.009. Epub 2013 Apr 27.
- Background: PubMed 19602640Biesecker LG, Mullikin JC, Facio FM, Turner C, Cherukuri PF, Blakesley RW, Bouffard GG, Chines PS, Cruz P, Hansen NF, Teer JK, Maskeri B, Young AC; NISC Comparative Sequencing Program; Manolio TA, Wilson AF, Finkel T, Hwang P, Arai A, Remaley AT, Sachdev V, Shamburek R, Cannon RO, Green ED. The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine. Genome Res. 2009 Sep;19(9):1665-74. doi: 10.1101/gr.092841.109. Epub 2009 Jul 14.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Robert D Shamburek, M.D. principal investigator
National Heart, Lung, and Blood Institute (NHLBI)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Lipid Disorders, run by National Heart, Lung, and Blood Institute (NHLBI) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 8 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identify the gene(s) mutation (s) that causes rare cases of dyslipidemia (time frame: Ongoing). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02311335, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 8 Oct 2026.