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
NCT03685721
This study is recruiting at 1 US site in 1 state, according to its ClinicalTrials.gov record last updated .
Summary
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.
Shortened from the sponsor's brief summary. View official record on ClinicalTrials.gov
Conditions studied
- Sickle Cell
- PKLR Variants
- Adenosine Triphosphate Activities
Eligibility basics and study details
- Study type
- Observational
- Phase
- Not applicable
- Ages
- 18 to 80 years
- Sex
- All
- Healthy volunteers
- Accepted
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
- Last updated on ClinicalTrials.gov
- August 17, 2026
These are the basic criteria only. The full inclusion and exclusion criteria are on the official record, and the study team decides who can take part.
US recruiting sites
Maryland · 1
- National Institutes of Health Clinical Center · Bethesda, MD
Source: ClinicalTrials.gov, data processed . Recruiting US sites filtered by distance and site status; summaries shortened.