Link between PKLR gene variants and sickle cell disease symptoms
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
National Institutes of Health Clinical Center (CC) · NCT03685721
This study is trying to see if changes in a specific gene can affect the symptoms of sickle cell disease in people.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 800 (estimated) |
| Ages | 18 Years to 80 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) (nih) |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT03685721 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates for this study are adults aged 18-80 of African descent, with or without sickle cell disease.
Not a fit: Patients who have had a blood transfusion in the last 8 weeks or have a known deficiency of pyruvate kinase may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved management strategies for patients with sickle cell disease based on their genetic profiles.
How similar studies have performed: While the specific approach of correlating PKLR variants with SCD symptoms is novel, similar genetic studies have shown promise in understanding other genetic disorders.
Eligibility criteria
Show full inclusion / exclusion criteria
* 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 this trial is running
Bethesda, Maryland
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Sickle Cell, PKLR Variants, Adenosine Triphosphate Activities, ATP, Trait, GDP, Genetics, Natural History