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Protocol Details

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

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

19-H-0139

Sponsoring Institute

National Heart, Lung and Blood Institute (NHLBI)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 18 Years
Max Age: N/A

Referral Letter Required

Yes

Population Exclusion(s)

Adults who are or may become unable to consent;
Children

Special Instructions

Currently Not Provided

Keywords

Cytopenia;
Myelodysplastic Syndrome;
Somatic Mutations

Recruitment Keyword(s)

None

Condition(s)

Clonal Hematopoiesis of Indeterminate Potential;
Clonal Cytopenia of Undetermined Significance

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Heart, Lung, and Blood Institute

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.

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Eligibility

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, <100x10(9) /L; or absolute neutrophil count, <1.5x10(9) /L

-Pregnant at the time of recruitment

-Treatment with previous chemotherapy or radiotherapy

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, <100x10(9) /L; or absolute neutrophil count, <1.5x10(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


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Citations:

Not Provided

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Contacts:

Principal Investigator

Referral Contact

For more information:

Emma M. Groarke, M.D.
National Heart, Lung and Blood Institute (NHLBI)



Ivana Darden, R.N.
National Heart, Lung and Blood Institute (NHLBI)
National Institutes of Health
Building 10
Room 4-5362
10 Center Drive
Bethesda, Maryland 20892
(301) 827-2988
ivana.darden@nih.gov

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: 1-866-411-1010
PRPL@cc.nih.gov

Clinical Trials Number:

NCT04102423

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