Testing genetic markers for early detection of myeloid cancers and bone marrow failure
Official title: Pre-myeloid Cancer and Bone Marrow Failure Clinic Study
Run by Mayo Clinic · NCT02958462 · Data updated 2026-11-12
This study is testing if looking for specific genetic markers in blood and tissue samples can help find myeloid cancers and bone marrow issues earlier in people who show early signs but aren't diagnosed yet.
Quick facts
| Study type | Interventional |
|---|---|
| Ages | 18 Years and up |
| Sex | All |
| Enrollment | 2000 (estimated) |
| Sponsor | Mayo Clinic Academic / other |
| Locations | 3 sites (Scottsdale, Arizona and 2 other locations) |
| Status | Recruiting |
| Started | January 16, 2017 |
| Main results expected | September 15, 2030 |
| Study ends | September 15, 2035 |
| Registry record updated | February 23, 2026 |
| Trial ID | NCT02958462 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include patients with idiopathic cytopenias, clonal hematopoiesis, or inherited syndromes that predispose them to myeloid malignancies.
✕Probably not a fit
Patients under 18 years of age will not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This clinical trial utilizes next generation sequencing (NGS) to identify genetic markers associated with pre-myeloid cancers and bone marrow failure syndromes. The study aims to diagnose and prognosticate patients who exhibit precursor features of myeloid neoplasms but do not yet meet diagnostic criteria. Participants will undergo various biospecimen collections, including blood samples and biopsies, to facilitate genomic analysis. The findings may lead to earlier interventions and a better understanding of disease progression and risk factors.
Why it matters
Potential benefit: If successful, this study could enable earlier detection and intervention for patients at risk of developing myeloid malignancies and bone marrow failure syndromes.
How similar studies have gone: Other studies utilizing genomic approaches for early detection of malignancies have shown promise, indicating potential success for this novel approach.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * Patients with idiopathic cytopenias of unclear significance (ICUS) * Patients with clonal hematopoiesis of indeterminate significance (clonal hematopoiesis of indeterminate potential \[CHIP\]), including the recently described CHIP syndrome called VEXAS (vacuoles, E1 ubiquitin ligase, X chromosomal, autoimmune and somatic) * Patients with clonal cytopenias of undetermined significance (CCUS) * Marrow failure syndromes with myeloid malignancy predisposition - telomere dysfunction, chromosomal breakage disorders * Germ line inherited syndromes with risk for malignant transformation - GATA2, CEBPA, ETV-6, RUNX1, JAK2, PF6, etc. * Low risk MDS (idiopathic dysplasia of unclear significance) * Family member of a patient with one of the above conditions * Patient at high risk or suspected of developing one of the above conditions Exclusion Criteria: * Patients under 18 years of age
Where it's running
-
Mayo Clinic in Arizona
Scottsdale, Arizona, United States Recruiting -
Mayo Clinic in Florida
Jacksonville, Florida, United States Recruiting -
Mayo Clinic in Rochester
Rochester, Minnesota, United States Recruiting
Study contacts
- Principal investigator: Mrinal S. Patnaik, MBBS — Mayo Clinic
- Study coordinator: Dani Rud
- Email: cimpmlresearch@mayo.edu
- Phone: 507-284-0228
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.