Sponsor study identifier
Secondary identifiers
observational
140
1 country
1
Study Start
November 26, 2014
Actual (reported)Primary Completion
September 2, 2021
Actual (reported)Study Completion
September 2, 2021
Actual (reported)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:
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
September 2, 2021
Actual (reported)Click on a node to explore related trials.
Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
November 26, 2014
Actual (reported)December 5, 2014
Actual (reported)December 8, 2014
Actual (reported)September 2, 2021
Actual (reported)September 2, 2021
Actual (reported)Identify the gene(s) mutation (s) that causes rare cases of dyslipidemia
Discovery data
Ongoing
Dyslipidemia patients
Entire population.
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892, United States
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.
Robert D Shamburek, M.D.
National Heart, Lung, and Blood Institute (NHLBI)
140 participants (actual enrollment reported by the registry).
First Submitted
December 5, 2014
First Posted
December 8, 2014
Study Start
November 26, 2014
Actual (reported)Contact the study team to confirm eligibility.
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.
Primary Completion
September 2, 2021
Actual (reported)Study Completion
September 2, 2021
Actual (reported)Last Updated
October 8, 2026
Record last verified: 2026-04-17
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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Source: ClinicalTrials.gov.
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