Genotype -Phenotype Correlation of PKLR Variants With Pyruvate Kinase, 2,3-Diphosphglycerate and … (NCT03685721) | Clinical Trial Compass
RecruitingNot Applicable
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
United States800 participantsStarted 2018-10-11
Plain-language 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.
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Who can participate
Age range
18 Years – 80 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
* 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.
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1This study is looking at specific genetic variants in the PKLR gene — would my doctor need to test whether I actually carry one of those four PKLR intron-2 variants before I could even be considered for this trial?
2Since this trial is focused on measuring and correlating things like pyruvate kinase activity and ATP levels rather than testing a new treatment, what would participating actually involve for me day-to-day — for example, would I need extra blood draws or clinic visits beyond my usual sickle cell care?
3This study is listed as Phase NA, which suggests it's an observational or biological research study rather than a drug trial — does that mean there's no experimental treatment involved, and could my doctor explain what direct benefit, if any, I might personally see from taking part?
4The study is looking at how PKLR variants affect red blood cell energy metabolism in people with sickle cell disease — could my doctor explain whether understanding my own PKLR genotype might eventually influence decisions about my treatment, or is this purely for research purposes right now?
5Given that this is a genetic and laboratory research study still actively recruiting, would joining it affect my access to or eligibility for other sickle cell treatment trials or standard therapies my doctor might be considering for me?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Genotype the 4 PKLR intron-2 variants
Timeframe: Upon enrollment of each subject
2
Analysis of PK-R transcriptome in red blood cells
Timeframe: Interim analysis performed for each group N=125
3
Correlation of 2,3-DPG, ATP and pyruvate kinase activities with PKLR intron-2 variants
Timeframe: Interim analysis performed for each group N=125
Trial details
NCT IDNCT03685721
SponsorNational Heart, Lung, and Blood Institute (NHLBI)