Pre-myeloid Cancer and Bone Marrow Failure Clinic Study

This study is looking for people aged 18 and older with certain blood conditions to help researchers understand and identify early signs of pre-myeloid cancers and bone marrow failure syndromes. You might be eligible if you have conditions like idiopathic cytopenias of unclear significance (low blood cell counts without a clear cause) or clonal hematopoiesis of indeterminate significance (CHIP), including VEXAS syndrome. The study uses next-generation sequencing (NGS), a test that looks at genes related to cancer, along with other procedures like blood and bone marrow samples. The goal is to find genetic markers that could help doctors identify people at risk earlier, potentially leading to earlier treatment. Success will be measured by tracking the occurrence of low blood cell counts over up to five years.

Study design
This is an interventional study with a planned enrollment of 2000 participants. It is not specified if it is randomized or blinded.
What's involved
You would undergo procedures such as blood, hair follicle, saliva, and skin punch biopsies, a bone marrow biopsy, and a clinical assessment.
Compensation
Not stated in the trial record.
Follow-up
The study will track the occurrence of cytopenias (low blood cell counts) for up to 5 years.

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NCT02958462

Pre-myeloid Cancer and Bone Marrow Failure Clinic Study

Recruiting
NAAges 18+InterventionalScreening
Mayo Clinic
~2,000 participants
Updated 2026-02-23 on ClinicalTrials.gov
What's tested:Biospecimen CollectionBone Marrow BiopsyPunch BiopsyBuccal SwabClinical EvaluationGenetic Counseling

At a glance

Recruiting sites
3 of 3 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Occurrence of cytopenias
Measured over Up tof 5 years
Myeloid Malignancy
Inherited Bone Marrow Failure Syndrome
Clonal Expansion
Cytopenia
Bone Marrow Failure Syndrome
Clonal Cytopenia of Undetermined Significance
Clonal Hematopoiesis of Indeterminate Potential
Hematologic Neoplasms
Hematopoietic and Lymphatic System Neoplasm
Hereditary Neoplastic Syndrome
Idiopathic Cytopenia of Undetermined Significance
Idiopathic Dysplasia of Uncertain Significance
Low Risk Myelodysplastic Syndrome
3 sites across 3 states
Arizona1
Florida1
Minnesota1
  • Mrinal S. Patnaik, MBBS · PRINCIPAL_INVESTIGATOR · Mayo Clinic

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Eligibility criteria

Inclusion

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

Patients under 18 years of age
  • Occurrence of cytopeniasUp tof 5 years

    Assessed by the number of subjects whose cytopenias are persistent or progressive over the course of the study