Genes Involved in Lipid Disorders

NCT02311335 | Completed

• 2 other identifiers: 15002415-H-0024
• Study Type: observational
• Target: 140
• Locations: 1 country
• Sites: 1

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.

Conditions

Lipid Disorders

Keywords

Hypertriglyceridemia; Atherosclerosis; Genectic Variants; Hyperalphalipoproteinemia; Dyslipidemia; Natural History

Outcome Measures

Primary Outcomes (1)

• Identify the gene(s) mutation (s) that causes rare cases of dyslipidemia

  Discovery data

  Ongoing

Study Arms (1)

1

Dyslipidemia patients

Eligibility Criteria

• Age: 2 Years - 99 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Entire population.

You may qualify if:

• 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)

You may not qualify if:

• 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.

Sponsors & Collaborators

• National Heart, Lung, and Blood Institute (NHLBI): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• 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.

  PMID: 20378768 BACKGROUND

• Oliveira 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.

  PMID: 23628525 BACKGROUND

• Biesecker 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.

  PMID: 19602640 BACKGROUND

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Lipid Metabolism Disorders; Hypertriglyceridemia; Atherosclerosis; Cholesteryl Ester Transfer Protein Deficiency; Dyslipidemias

Condition Hierarchy (Ancestors)

Metabolic Diseases; Nutritional and Metabolic Diseases; Hyperlipidemias; Arteriosclerosis; Arterial Occlusive Diseases; Vascular Diseases; Cardiovascular Diseases

Study Officials

• Robert D Shamburek, M.D.

  National Heart, Lung, and Blood Institute (NHLBI)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 5, 2014
• First Posted: December 8, 2014
• Study Start: November 26, 2014
• Primary Completion: September 2, 2021
• Study Completion: September 2, 2021
• Last Updated: May 7, 2026

Record last verified: 2026-04-17

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)