Link between PKLR gene variants and sickle cell disease symptoms

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to investigate the relationship between genetic variants in the PKLR gene and the symptoms of sickle cell disease (SCD). Researchers will analyze how these variants affect the activity of pyruvate kinase and other proteins in red blood cells, which are crucial for maintaining cell function. Participants will be screened based on specific criteria, including age and genetic background, and will provide DNA samples for analysis. The study seeks to enhance understanding of the genetic factors influencing SCD complications.

Why it matters

Who can join: the full rules

* 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.

Where it's running

• National Institutes of Health Clinical Center
  Bethesda, Maryland, United States Recruiting

Study contacts

• Principal investigator: Swee Lay Thein, M.D. — National Heart, Lung, and Blood Institute (NHLBI)
• Study coordinator: Dianna S Lovins
• Email: dianna.lovins@nih.gov
• Phone: (301) 480-3765

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.