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Protocol Details

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

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

18-H-0146

Sponsoring Institute

National Heart, Lung and Blood Institute (NHLBI)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 18
Max Age: 80

Referral Letter Required

No

Population Exclusion(s)

Children

Special Instructions

Currently Not Provided

Keywords

ATP;
Trait;
GDP;
Genetics

Recruitment Keyword(s)

None

Condition(s)

Sickle Cell;
PKLR Variants;
Adenosine Triphosphate Activities

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Heart, Lung, and Blood Institute

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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Eligibility

INCLUSUION CRITERIA:

- Between 18 and 80 years of age

- African or of African descent

- Willingness and capacity to provide written informed consent.

EXCLUSION CRITERIA:

- History of blood transfusion within the last 8 weeks

- Known to have pyruvate kinase deficiency and be on AG348


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Citations:

Not Provided

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Contacts:

Principal Investigator

Referral Contact

For more information:

Swee Lay Thein, M.D.
National Heart, Lung and Blood Institute (NHLBI)



OPR Office of Patient Recruitment
National Heart, Lung and Blood Institute (NHLBI)

(800) 411-1222
prpl@cc.nih.gov

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: 1-866-411-1010
PRPL@cc.nih.gov

Clinical Trials Number:

NCT03685721

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