NCT03685721Recruiting
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
Genotype -Phenotype Correlation of PKLR Variants With Pyruvate Kinase, 2,3-Diphosphglycerate and ATP Activities in Red Blood Cells of Patients With Sickle Cell Disease
Source: ClinicalTrials.gov · Last updated 27 Oct 2026
Brief summary (registry, in English)
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. ...
- Status (registry)
- Recruiting
- Study type
- Observational
- Enrollment
- 800 (estimated)
- First submitted
- 25 Sept 2018
- Start date
- 11 Oct 2018
- Primary completion date
- 1 Jul 2027
- Lead sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
- Diseases
- Sickle cell disease
- NCT number
- NCT03685721
What you commit to
- Study type: Observational
- Planned participants: 800
- From 11 Oct 2018 to the primary completion date, 1 Jul 2027
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study design.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other illness
- Self-reported history of blood transfusion within the last 8 weeks
Other
- 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.
Criteria the registry did not label
- INCLUSUION CRITERIA:
- Between 18 and 80 years of age
- African or of African descent
- Capacity to consent is required
Age in the registry: 18 years to 80 years · Sex: All · Accepts healthy volunteers
Sites (1)
Sites in registry order. Save your city in your profile to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| National Institutes of Health Clinical Center Coordinator of this site? Confirm its status | Bethesda | United States | Recruiting |
Related publications
This page is information, not medical advice. Discuss any trial with your doctor.