NCT03685721 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
| NCT ID | NCT03685721 |
| Status | Recruiting |
| Phase | — |
| Sponsor | National Heart, Lung, and Blood Institute (NHLBI) |
| Condition | Sickle Cell |
| Study Type | OBSERVATIONAL |
| Enrollment | 800 participants |
| Start Date | 2018-10-11 |
| Primary Completion | 2027-07-01 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 800 participants in total. It began in 2018-10-11 with a primary completion date of 2027-07-01.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief 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. 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. ...
Eligibility 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.
Contact & Investigator
Swee Lay Thein, M.D.
PRINCIPAL INVESTIGATOR
National Heart, Lung, and Blood Institute (NHLBI)
Frequently Asked Questions
Who can join the NCT03685721 clinical trial?
This trial is open to participants of all sexes, aged 18 Years or older, up to 80 Years, studying Sickle Cell. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT03685721 currently recruiting?
Yes, NCT03685721 is actively recruiting participants. Contact the research team at dianna.lovins@nih.gov for enrollment information.
Where is the NCT03685721 trial being conducted?
This trial is being conducted at Bethesda, United States.
Who is sponsoring the NCT03685721 clinical trial?
NCT03685721 is sponsored by National Heart, Lung, and Blood Institute (NHLBI). The principal investigator is Swee Lay Thein, M.D. at National Heart, Lung, and Blood Institute (NHLBI). The trial plans to enroll 800 participants.
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