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
Recruiting
Observational Study
Sickle Cell
PKLR Variants
Adenosine Triphosphate Activities
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
Healthy Volunteers Welcome
You do not need to have the condition being studied to take part.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Age
- 18 – 80
- Sex
- Any
- Study type
- Observational
- Participants needed
- 800 (estimated)
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI) · NIH
Think this trial could be right for you?
Answer a few quick questions to see if you may meet the eligibility requirements.
Check Your Eligibility
About This Trial
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 chan…
Trial Locations
Loading…
Loading trial locations…
Eligibility 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 underg…
Contacts