Actively Recruiting
CHIP/CCUS Natural History Protocol
Led by National Heart, Lung, and Blood Institute (NHLBI) · Updated on 2026-04-06
306
Participants Needed
1
Research Sites
706 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Background: Clonal Hematopoiesis of Indeterminate Potential (CHIP) is a change in a person s DNA that can increase a person s risk of developing blood cancers or cardiovascular disease. CHIP occurs mostly occurs in older people. Clonal cytopenia of undetermined significance (CCUS) occurs when one or more blood cell types is lower than it should be and is associated with a change in their DNA. Researchers want to learn more about how CHIP and CCUS progress. Objective: To examine the natural history of people in a study of CHIP and CCUS to (1) verify the association of myeloid somatic mutations with atherosclerosis and blood cancers, and (2) find new potential clinical associations. Eligibility: Adults 18 and older with CHIP with a somatic pathogenic variant associated with blood cancers. Adults with CCUS are also needed. Design: Potential participants will be screened with gene testing. For this, they will give a blood sample. They will also be enrolled in NHLBI screening protocol #97-H-0041. Those who pass this screening will visit the NIH Clinical Center for more screening tests. For this, they will give a blood sample. They will have a physical exam. They will give their medical history. They may give a urine sample. Those with CCUS will have bone marrow taken. Eligible participants will give blood and urine samples. Their heart activity will be monitored and tested. The arteries in their neck will be assessed using ultrasound. They will have liver and heart scans. They will have a bone mineral density scan. They will have lung function tests. They will have the inside of their cheek swabbed or have a skin punch biopsy. They will have the option to have advanced scans done of their heart and full body but this is not required. Participants will have yearly follow-up visits for 10 years. They will repeat the above procedures every 1-3 years depending on the procedure.
CONDITIONS
Official Title
CHIP/CCUS Natural History Protocol
Who Can Participate
Eligibility Criteria
You may qualify if you...
- 18 years of age or older
- Willing and able to provide written informed consent
- Presence of a somatic pathogenic variant associated with blood cancers
- Variant allele fraction of 2% or higher in at least one identified somatic pathogenic variant
- For CCUS participants: bone marrow biopsy excluding blood cancers and myelodysplastic syndromes
- For CCUS participants: presence of cytopenia for over 30 days with at least two blood counts documented at least 3 days apart
You will not qualify if you...
- Known diagnosis of a blood cancer or bone marrow failure syndrome (excluding MGUS or MBL)
- Presence of low blood counts: hemoglobin less than 10 g/dL, platelet count less than 100 x 10⁹/L, or absolute neutrophil count less than 1.5 x 10⁹/L
- Pregnant at time of recruitment
- For CCUS participants: bone marrow showing 10% or more dysplastic cells in any blood cell type
- For CCUS participants: ringed sideroblasts more than 15%
- For CCUS participants: presence of specific myelodysplastic syndrome-defining chromosomal abnormalities
- For CCUS participants: alternative blood disorder causing cytopenia
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
T
Tania R Machado
CONTACT
E
Emma M Groarke, M.D.
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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