This study is currently recruiting participants.
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 Years Max Age: 80 Years
Referral Letter Required
No
Population Exclusion(s)
Children
Keywords
ATP; Trait; GDP; Genetics; Natural History
Recruitment Keyword(s)
None
Condition(s)
Sickle Cell; PKLR Variants; Adenosine Triphosphate Activities
Investigational Drug(s)
Investigational Device(s)
Intervention(s)
Supporting Site
National Heart, Lung, and Blood Institute
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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INCLUSUION CRITERIA: - Between 18 and 80 years of age - African or of African descent EXCLUSION CRITERIA: - 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.
- Between 18 and 80 years of age
- African or of African descent
EXCLUSION CRITERIA:
- 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.
Principal Investigator
Referral Contact
For more information: