Understanding the natural progression of blood cell disorders

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to investigate the natural history of Clonal Hematopoiesis of Indeterminate Potential (CHIP) and Clonal Cytopenia of Undetermined Significance (CCUS) in adults. Researchers will screen participants for somatic pathogenic variants associated with blood cancers through blood samples and gene testing. The study seeks to verify the links between these genetic mutations, atherosclerosis, and the development of blood cancers, while also exploring new clinical associations. The findings could enhance understanding of these conditions and their progression.

Why it matters

Who can join: the full rules

* 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

Where it's running

• National Institutes of Health Clinical Center
  Bethesda, Maryland, United States Recruiting

Study contacts

• Principal investigator: Fernanda Gutierrez Rodrigues — National Heart, Lung, and Blood Institute (NHLBI)
• Study coordinator: Chanelle A Hutchinson
• Email: chanelle.hutchinson@nih.gov
• Phone: (301) 827-1094

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

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• Clonal Hematopoiesis Effects with Chemo and Radiation in Solid Cancers

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• Nicotinamide Riboside and Pterostilbene in lower risk MDS and high-risk CCUS

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• Precision colchicine to target atherosclerosis in people with TET2-CHIP after ACS

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• Evaluating the risk of blood cancers in firefighters

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• Early treatment for high-risk Clonal Cytopenia of Undetermined Significance

  This study is testing if an early treatment with a new oral medication can help people with high-risk Clonal Cytopenia of Undetermined Significance feel better and stay healthier over three years.

  Recruiting Early Phase 1 Dana-Farber Cancer Institute · Boston, Massachusetts · NCT06802146

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.