Geni coinvolti nei disturbi lipidici
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.
Panoramica dello studio
Stato
Condizioni
Descrizione dettagliata
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.
Tipo di studio
Iscrizione (Effettivo)
Contatti e Sedi
Luoghi di studio
-
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Maryland
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Bethesda, Maryland, Stati Uniti, 20892
- National Institutes of Health Clinical Center
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-
Criteri di partecipazione
Criteri di ammissibilità
Età idonea allo studio
Accetta volontari sani
Sessi ammissibili allo studio
Metodo di campionamento
Popolazione di studio
Entire population.
Descrizione
- INCLUSION CRITERIA:
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:
- 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.
Piano di studio
Come è strutturato lo studio?
Dettagli di progettazione
- Modelli osservazionali: FAMILY_BASED
- Prospettive temporali: PROSPECTIVE
Coorti e interventi
Gruppo / Coorte |
|---|
|
1
Dyslipidemia patients |
Cosa sta misurando lo studio?
Misure di risultato primarie
Misura del risultato |
Misura Descrizione |
Lasso di tempo |
|---|---|---|
|
Identify the gene(s) mutation (s) that causes rare cases of dyslipidemia
Lasso di tempo: Ongoing
|
Discovery data |
Ongoing
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Collaboratori e investigatori
Investigatori
- Investigatore principale: Robert D Shamburek, M.D., National Heart, Lung, and Blood Institute (NHLBI)
Pubblicazioni e link utili
Pubblicazioni generali
- 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.
Collegamenti utili
Studiare le date dei record
Studia le date principali
Inizio studio (Effettivo)
Completamento primario (Effettivo)
Completamento dello studio (Effettivo)
Date di iscrizione allo studio
Primo inviato
Primo inviato che soddisfa i criteri di controllo qualità
Primo Inserito (Stimato)
Aggiornamenti dei record di studio
Ultimo aggiornamento pubblicato (Effettivo)
Ultimo aggiornamento inviato che soddisfa i criteri QC
Ultimo verificato
Maggiori informazioni
Termini relativi a questo studio
Parole chiave
Termini MeSH pertinenti aggiuntivi
Altri numeri di identificazione dello studio
- 150024
- 15-H-0024
Piano per i dati dei singoli partecipanti (IPD)
Hai intenzione di condividere i dati dei singoli partecipanti (IPD)?
Descrizione del piano IPD
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.
Informazioni su farmaci e dispositivi, documenti di studio
Studia un prodotto farmaceutico regolamentato dalla FDA degli Stati Uniti
Studia un dispositivo regolamentato dalla FDA degli Stati Uniti
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