Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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COMPLETED
140 participants
OBSERVATIONAL
2014-11-26
2021-09-02
Brief Summary
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\- 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
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Conditions
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Keywords
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Study Design
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FAMILY_BASED
PROSPECTIVE
Study Groups
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1
Dyslipidemia patients
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
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
2. Prisoners or other institutionalized persons will not be allowed to participate.
3. Children \<2 years of age.
2 Years
99 Years
ALL
No
Sponsors
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National Heart, Lung, and Blood Institute (NHLBI)
NIH
Responsible Party
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Principal Investigators
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Robert D Shamburek, M.D.
Role: PRINCIPAL_INVESTIGATOR
National Heart, Lung, and Blood Institute (NHLBI)
Locations
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National Institutes of Health Clinical Center
Bethesda, Maryland, United States
Countries
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References
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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.
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.
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.
Related Links
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NIH Clinical Center Detailed Web Page
Other Identifiers
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15-H-0024
Identifier Type: -
Identifier Source: secondary_id
150024
Identifier Type: -
Identifier Source: org_study_id