Actively Recruiting

Age: 18Years - 99Years
All Genders
ID04102423

Investigation of the Natural Progression of Clonal Hematopoiesis of Indeterminate Potential and Clonal Cytopenia of Undetermined Significance

Led by National Heart, Lung, and Blood Institute (NHLBI) · Updated on 2026-05-22

306

Participants Needed

1

Research Sites

N/A

Total Duration

On this page

AI-Summary

What this Trial Is About

Researchers are investigating the natural progression of Clonal Hematopoiesis of Indeterminate Potential (CHIP) and Clonal Cytopenia of Undetermined Significance (CCUS). These are conditions involving changes in blood cell DNA that may increase the risk of blood cancers and cardiovascular disease, mainly affecting older adults. The study aims to verify known links between specific DNA mutations and diseases like atherosclerosis and blood cancers, and to discover new clinical associations. Participants include adults 18 and older with CHIP or CCUS who will undergo gene testing and other screening procedures. Those qualifying will provide blood and urine samples and may have bone marrow taken if they have CCUS. The study involves monitoring heart activity, neck artery ultrasounds, liver and heart scans, bone density scans, lung function tests, and tissue sampling from the cheek or skin. Optional advanced scans of the heart and full body may be performed. Participants are grouped based on their condition and specific mutations. Participants will have yearly follow-up visits for 10 years, repeating various tests every 1 to 3 years. Researchers will monitor immune response, progression to blood cancers or cytopenia, and the stability of DNA mutations. They will also assess associations with chronic infections, metabolic conditions, vitamin levels, kidney, lung, and liver health. This long-term observation aims to improve understanding of CHIP and CCUS and guide future management strategies.

CONDITIONS

Brief Title

CHIP/CCUS Natural History Protocol

Who Can Participate

Age: 18Years - 99Years
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Age 18 years 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 mutation
  • For CCUS: bone marrow biopsy excluding blood cancer and evidence of cytopenia for more than 30 days
  • At least two complete blood counts documented at least 3 days apart for CCUS
Not Eligible

You will not qualify if you...

  • Known diagnosis of blood cancer or bone marrow failure syndrome (except MGUS or MBL)
  • Hemoglobin below 10 g/dL, platelet count below 100 x 10^9/L, or neutrophil count below 1.5 x 10^9/L
  • Pregnant at time of recruitment
  • For CCUS: morphological evidence of dysplasia with 10% or more dysplastic cells
  • Ringed sideroblasts over 15%
  • Presence of specific MDS-defining cytogenetic abnormalities
  • Alternate blood disorder causing cytopenia

AI-Screening

AI-Powered Screening

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

1 visit (in-person)

Surveillance

Duration - Up to 10 years

Participants with CHIP or CCUS are observed over time to study the natural progression of their condition and related health outcomes.

Periodic visits depending on clinical needs

Trial Site Locations

Total: 1 location

1

National Institutes of Health Clinical Center

Bethesda, Maryland, United States, 20892

Actively Recruiting

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Research Team

T

Tania R Machado

E

Emma M Groarke, M.D.

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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