Skip to content
Bored Studies
RecruitingAccepts healthy volunteers

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

National Heart, Lung, and Blood Institute (NHLBI) · NCT03685721

View Study & Apply (opens in a new tab)

Opens the official ClinicalTrials.gov record, with the study team’s contacts. Bored Studies doesn’t enroll anyone.

Key facts

Compensation
Not posted. Ask the study team before screening.
Who can join
Ages 18–80 · All sexes
Healthy volunteers
Accepted
Study type
Observational
Target enrollment
800
US sites recruiting
1
Study start
October 11, 2018
Record last updated
August 17, 2026

Status re-checked against ClinicalTrials.gov within the last 12 hours.

What the study is about

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.

...

Conditions: Sickle Cell; PKLR Variants; Adenosine Triphosphate Activities

Eligibility criteria

Copied from the official record. The study team makes the final decision at screening.

Show full criteria
  • INCLUSUION CRITERIA:
  • Between 18 and 80 years of age
  • African or of African descent
  • Capacity to consent is required

EXCLUSION CRITERIA

  • Self-reported history of blood transfusion within the last 8 weeks
  • Known to have pyruvate kinase deficiency and be on AG348
  • All volunteers will undergo the consent process under this protocol to allow for eligibility assessment. Once they have been consented to participate, they will undergo procedures per Protocol.

Recruiting US locations

  • National Institutes of Health Clinical Center

    Bethesda, MD 20892

    Site contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) · 800-411-1222 · prpl@cc.nih.gov

Study contacts (from the official record)

  • Dianna S Lovins · (301) 480-3765 · dianna.lovins@nih.gov
All healthy volunteers studies in Maryland →
Genotype -Phenotype Correlation of PKLR Variants With Pyruvate… (NCT03685721) | Bored Studies