Status:

RECRUITING

CHIP/CCUS Natural History Protocol

Lead Sponsor:

National Heart, Lung, and Blood Institute (NHLBI)

Conditions:

Clonal Hematopoiesis of Indeterminate Potential

Clonal Cytopenia of Undetermined Significance

Eligibility:

All Genders

18-99 years

Brief Summary

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 m...

Detailed Description

Clonal Hematopoiesis of Indeterminate Potential (CHIP) has been defined as the presence of a somatic pathogenic variant associated with hematological malignancy, with an allele fraction of at least 2%...

Eligibility Criteria

Inclusion

  • Participants with Clonal Hematopoiesis of Indeterminate Significance (CHIP):
  • INCLUSION CRITERIA:
  • Greater than or equal to 18 years of age
  • Willingness and capacity to provide written informed consent
  • Presence of a somatic pathogenic variant associated with hematological malignancy
  • Variant allele fraction of greater than or equal to 2% in at least one identified somatic pathogenic variant
  • EXCLUSION CRITERIA:
  • Known diagnosis of a hematological malignancy or bone marrow failure syndrome (excluding MGUS or MBL)
  • Presence of a cytopenia:
  • -Hemoglobin, \<10 g/dL; platelet count, \<100 X 10\^9 /L; or absolute neutrophil count, \<1.5 X 10\^9 /L
  • Pregnant at the time of recruitment
  • Participants with Clonal Cytopenia of Uncertain Significance (CCUS):
  • INCLUSION CRITERIA:
  • Greater than 18 years of age
  • Willingness and capacity to provide written informed consent
  • Presence of a somatic pathogenic variant associated with hematological malignancy without morphological evidence of
  • myelodysplasia and without a MDS defining cytogenetic abnormality
  • Variant allele fraction of greater than or equal to 2% in at least one identified somatic pathogenic variant
  • Bone marrow aspirate and biopsy excluding hematological malignancy and MDS
  • Presence of a cytopenia for \>30 days
  • Hemoglobin, \<10 g/dL; platelet count, \<100 X10\^9 /L; or absolute neutrophil count, \<1.5 X10\^9 /L
  • At least 2 CBCs documented in a non-hospitalized patient at least 3 days apart
  • EXCLUSION CRITERIA:
  • Known diagnosis of a hematological malignancy or bone marrow failure syndrome (excluding MGUS or MBL)
  • Morphological evidence of dysplasia on bone marrow aspirate / biopsy 10% dysplastic cells in any hematopoietic lineage
  • Ringed sideroblasts \>15%
  • Presence of MDS defining cytogenetic abnormality
  • del(7q)
  • del(5q)
  • 17q or t(17p)
  • del(13q)
  • del(11q)
  • del(12p) or t(12p)
  • del(9q)
  • idic(X)(q13)
  • t(11;16)
  • t(3;21)
  • t(1;3)
  • t(2;11)
  • inv(3)/t(3;3)
  • t(6;9)
  • -Note: As a sole cytogenetic abnormality in the absence of morphological criteria, gain of chromosome 8, del(20q) and loss of chromosome Y are not considered definitive evidence of MDS.
  • Alternate hematological diagnosis causing cytopenia
  • Pregnant at time of recruitment
  • Previous chemotherapy or radiotherapy

Exclusion

    Key Trial Info

    Start Date :

    March 3 2020

    Trial Type :

    OBSERVATIONAL

    Allocation :

    ESTIMATED

    End Date :

    September 15 2033

    Estimated Enrollment :

    306 Patients enrolled

    Trial Details

    Trial ID

    NCT04102423

    Start Date

    March 3 2020

    End Date

    September 15 2033

    Last Update

    October 16 2025

    Active Locations (1)

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    Page 1 of 1 (1 locations)

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    National Institutes of Health Clinical Center

    Bethesda, Maryland, United States, 20892