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Genes Involved in Lipid Disorders

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ClinicalTrials.gov Identifier: NCT02311335
Recruitment Status : Recruiting
First Posted : December 8, 2014
Last Update Posted : October 1, 2019
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Heart, Lung, and Blood Institute (NHLBI) )

Tracking Information
First Submitted Date December 5, 2014
First Posted Date December 8, 2014
Last Update Posted Date October 1, 2019
Actual Study Start Date November 26, 2014
Estimated Primary Completion Date September 1, 2025   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: August 23, 2018)
Identify the gene(s) mutation (s) that causes rare cases of dyslipidemia [ Time Frame: Ongoing ]
Discovery data
Original Primary Outcome Measures
 (submitted: December 5, 2014)
Identify the gene(s) mutation (s) that causes rare cases of dyslipidemia [ Time Frame: 3 days to 50 years ]
Change History Complete list of historical versions of study NCT02311335 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Genes Involved in Lipid Disorders
Official Title Genes Involved in Lipid Disorders
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.
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 Type Observational
Study Design Observational Model: Family-Based
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population Entire population.
Condition Lipid Disorders
Intervention Not Provided
Study Groups/Cohorts 1
Dyslipidemia patients
Publications *

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: December 5, 2014)
250
Original Estimated Enrollment Same as current
Estimated Study Completion Date September 1, 2025
Estimated Primary Completion Date September 1, 2025   (Final data collection date for primary outcome measure)
Eligibility Criteria
  • 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:

  1. Inability or unwillingness to provide informed consent or assent
  2. Prisoners or other institutionalized persons will not be allowed to participate.
  3. Children <2 years of age.
Sex/Gender
Sexes Eligible for Study: All
Ages 2 Years to 99 Years   (Child, Adult, Older Adult)
Accepts Healthy Volunteers Yes
Contacts
Contact: Robert D Shamburek, M.D. (301) 496-3460 bobs@mail.nih.gov
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT02311335
Other Study ID Numbers 150024
15-H-0024
Has Data Monitoring Committee Not Provided
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement Not Provided
Responsible Party National Institutes of Health Clinical Center (CC) ( National Heart, Lung, and Blood Institute (NHLBI) )
Study Sponsor National Heart, Lung, and Blood Institute (NHLBI)
Collaborators Not Provided
Investigators
Principal Investigator: Robert D Shamburek, M.D. National Heart, Lung, and Blood Institute (NHLBI)
PRS Account National Institutes of Health Clinical Center (CC)
Verification Date August 19, 2019