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NCT03685721 · ClinicalTrials.gov registry record
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
A clinical trial of Sickle Cell and PKLR Variants, sponsored by National Heart, Lung, and Blood Institute (NHLBI).
- Recruiting
- Registry status
- 800
- Enrollment target
- 1
- Study location
NCT03685721: Recruiting study of Sickle Cell and PKLR Variants, sponsored by National Heart, Lung, and Blood Institute (NHLBI).
NCT03685721 is a study of Sickle Cell and PKLR Variants that is actively recruiting participants, run by National Heart, Lung, and Blood Institute (NHLBI). The registered enrollment target is 800 participants. The trial reports 1 study location across 1 state. According to ClinicalTrials.gov, the official US trial registry.
The verdict
NCT03685721, a study of Sickle Cell and PKLR Variants, is actively recruiting participants, sponsored by National Heart, Lung, and Blood Institute (NHLBI).
- RECRUITING
- Registry status
- 800 participants
- Enrollment target
- 1
- Study location
Study 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. ...
Primary Outcome
To have genotyped the 4 PKLR intron-2 variants in SCD patients from the NHLBI cohort using genomic DNA and compare them to a cohort of healthy ethnic-matched non-SCD controls and a cohort of sickle cell trait carriers, with those reported in 1000 genome project (http://www.1000genomes.org).
Conditions Studied
Study Locations (1)
Maryland
- National Institutes of Health Clinical Center - Bethesda
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 800 participants |
| Start Date | 2018-10-11 |
| Est. Completion | 2026-07-01 |
What NCT03685721 shows while recruiting
NCT03685721 is an observational study that tracks outcomes without assigning an intervention. The registered 800 participants enrollment target is mid-sized for trials with a published cap.
The record links to 3 conditions, with Sickle Cell appearing as the primary indexed condition, and to 0 interventions.
NCT03685721 reports a single indexed study location in Maryland.
Frequently Asked Questions
What is clinical trial NCT03685721 about?
NCT03685721 is a clinical study titled "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". 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 functioni...
What is the current status of trial NCT03685721?
This trial is currently recruiting. The enrollment target is 800 participants. The study started on 2018-10-11. Estimated completion is 2026-07-01.
What conditions does trial NCT03685721 study?
This clinical trial studies the following conditions: Sickle Cell, PKLR Variants, Adenosine Triphosphate Activities.
Who is sponsoring clinical trial NCT03685721?
This trial is sponsored by National Heart, Lung, and Blood Institute (NHLBI), which has 501 total clinical trials registered on ClinicalTrials.gov.
Where is trial NCT03685721 being conducted?
This trial has 1 study location across Maryland. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
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