Genotype -Phenotype Correlation of PKLR Variants With Pyruvate Kinase, 2,3-Diphosphglycerate and Adenosine Triphosphate Activities in Red Blood Cells of People With Sickle Cell Disease

Part of paid clinical trials in Bethesda, Maryland.

Sponsor
National Heart, Lung, and Blood Institute (NHLBI)
Study ID
NCT03685721
Status
Recruiting
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Conditions

  • Adenosine Triphosphate Activities
  • PKLR Variants
  • Sickle Cell

Eligibility Criteria

Sex
ALL
Age
18 Years - 80 Years
Healthy Volunteers
Accepted

Study Details

Background: Some people with the same disorder on a genetic level have more complications than others. Researchers want to look for a link between the PKLR gene and sickle cell disease (SCD) symptoms. The PKLR gene helps create a protein, called pyruvate kinase that is essential in normal functioning of the red blood cell. Differences in the PKLR gene, called genetic variants, may cause some changes in the pyruvate kinase protein and other proteins, that can affect functioning of the red blood cell adding to the effect of SCD. Researchers can study these differences by looking at DNA (the material that determines inherited characteristics). Objective: To study how the PKLR gene affects sickle cell disease. Eligibility: Adults ages 18-80 of African descent. They may have sickle cell disease or not. They must not have had a transfusion recently or have a known deficiency of pyruvate kinase. They cannot be pregnant. Design: Participants will be screened with questions. Participants will have blood drawn by needle in an arm vein. The blood will be genetically tested. Not much is known about how genes affect SCD, so the test results will not be shared with participants or their doctors. ...

Key Dates

Start date
Oct 11, 2018
Status verified
Jun 2026
Primary completion
Jul 1, 2026
Completion
Jul 1, 2026

Study Design

Enrollment
800 participants (estimated)

Arms

  • Arm: HbAS
    HbAS genotype, of African American descent;Between 18 and 80 years of age
  • Arm: Healthy control
    African American descent;Between 18 and 80 years of age
  • Arm: SCD
    HbSS, HbSC, HbSbeta-thal has sickle cell disease and is of African American descent;Between 18 and 80 years of age

Primary Outcome Measure

Genotype the 4 PKLR intron-2 variants [ Time Frame: Upon enrollment of each subject ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
National Institutes of Health Clinical CenterBethesdaMaryland20892
For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
[email protected]
800-411-1222

Find similar trials in Bethesda, MD

By condition
Sickle cell disease
By research site
National Institutes of Health Clinical Center· Bethesda, MD

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