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

Launched by NATIONAL HEART, LUNG, AND BLOOD INSTITUTE (NHLBI) · Sep 25, 2018

Keywords

ClinConnect Summary

This clinical trial is studying how a specific gene, called the PKLR gene, affects people with sickle cell disease (SCD). The PKLR gene helps make a protein that is important for the health of red blood cells. Researchers believe that changes in this gene could influence the symptoms and complications experienced by individuals with SCD. By looking at the genetic differences in participants, the study aims to better understand how these variations impact the condition.

To join the study, participants must be adults aged 18 to 80 who are of African descent. They should either have sickle cell disease or not have it at all. To participate, they should not have had a blood transfusion in the last eight weeks, cannot have a known deficiency in pyruvate kinase, and cannot be pregnant. If eligible, participants will answer some questions and then have a small amount of blood drawn for genetic testing. It’s important to note that the results from these tests will not be shared with participants or their doctors, as researchers are mainly looking to gather information to improve understanding of sickle cell disease.

Gender

ALL

Eligibility criteria

• * INCLUSUION CRITERIA:
• • Between 18 and 80 years of age
• • African or of African descent
• 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.