Understanding the natural progression of blood cell disorders
Investigation of the Natural Progression of Clonal Hematopoiesis of Indeterminate Potential and Clonal Cytopenia of Undetermined Significance.
This study is trying to understand how certain blood cell disorders develop over time in adults by looking at their genes and seeing if they are linked to blood cancers and other health issues.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 306 (estimated) |
| Ages | 18 Years to 99 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT04102423 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include adults aged 18 and older with CHIP or CCUS and specific somatic pathogenic variants.
Not a fit: Patients with known hematological malignancies or severe cytopenias will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to better risk assessment and management strategies for patients with CHIP and CCUS.
How similar studies have performed: While the study focuses on the natural history of these conditions, similar approaches have shown promise in understanding pre-neoplastic phases in other hematological disorders.
Eligibility criteria
Show full inclusion / exclusion criteria
* 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 this trial is running
Bethesda, Maryland
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)
Study contacts
- Principal investigator: Emma M Groarke, M.D. — National Heart, Lung, and Blood Institute (NHLBI)
- Study coordinator: Tania R Machado
- Email: tania.machado@nih.gov
- Phone: (301) 661-1505
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.