Pre-myeloid Cancer and Bone Marrow Failure Clinic Study
Trial Snapshot
- Phase
- Not Applicable
- Status
- Recruiting
- Sponsor
- Mayo Clinic
- Enrollment
- 2,000
- Locations
- 3
- Primary Endpoint
- Occurrence of cytopenias
Study Overview
Brief Summary
This clinical trial tests next generation sequencing (NGS) for the detection of precursor features of pre-myeloid cancers and bone marrow failure syndromes. NGS is a procedure that looks at relevant cancer associated genes and what they do. Finding genetic markers for pre-malignant conditions may help identify patients who are at risk of pre-myeloid cancers and bone marrow failure syndromes and lead to earlier intervention.
Detailed Description
PRIMARY OBJECTIVES:
I. To use genomics and functional translational studies to diagnose, prognosticate and potentially offer therapeutic directives for patients with precursor features of myeloid neoplasms (myelodysplastic syndrome [MDS], myeloproliferative neoplasms [MPN], MDS/MPN overlap syndrome) and germline predisposition/bone marrow failure states, who do not meet the criteria for the diagnosis of these cancers as of yet.
II. To identify patients with precursor myeloid malignancies and bone marrow failure syndromes.
III. To examine the utility of NGS methods for discovery of targets or pathways involved in precursor features of myeloid cancer and bone marrow failure.
IV. To use clinomics/genomics to better understand pathobiology and risk of disease progression.
Study Design
- Study Type
- Interventional
- Allocation
- Na
- Intervention Model
- Single Group
- Primary Purpose
- Screening
- Masking
- None
Eligibility Criteria
- Ages
- 18 Years to — (Adult, Older Adult)
- Sex
- All
- Accepts Healthy Volunteers
- No
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
Arms & Interventions
Screening (biospecimen collection, NGS analysis)
Participants may undergo blood sample collection, a bone marrow biopsy, a skin punch biopsy, hair follicle collection, a buccal swab, and/or saliva collection for NGS analysis on study. Patients may additionally undergo clinical assessment and may receive genetic counseling on study.
Intervention: Biospecimen Collection (Procedure)
Screening (biospecimen collection, NGS analysis)
Participants may undergo blood sample collection, a bone marrow biopsy, a skin punch biopsy, hair follicle collection, a buccal swab, and/or saliva collection for NGS analysis on study. Patients may additionally undergo clinical assessment and may receive genetic counseling on study.
Intervention: Bone Marrow Biopsy (Procedure)
Screening (biospecimen collection, NGS analysis)
Participants may undergo blood sample collection, a bone marrow biopsy, a skin punch biopsy, hair follicle collection, a buccal swab, and/or saliva collection for NGS analysis on study. Patients may additionally undergo clinical assessment and may receive genetic counseling on study.
Intervention: Punch Biopsy (Procedure)
Screening (biospecimen collection, NGS analysis)
Participants may undergo blood sample collection, a bone marrow biopsy, a skin punch biopsy, hair follicle collection, a buccal swab, and/or saliva collection for NGS analysis on study. Patients may additionally undergo clinical assessment and may receive genetic counseling on study.
Intervention: Buccal Swab (Procedure)
Screening (biospecimen collection, NGS analysis)
Participants may undergo blood sample collection, a bone marrow biopsy, a skin punch biopsy, hair follicle collection, a buccal swab, and/or saliva collection for NGS analysis on study. Patients may additionally undergo clinical assessment and may receive genetic counseling on study.
Intervention: Clinical Evaluation (Other)
Screening (biospecimen collection, NGS analysis)
Participants may undergo blood sample collection, a bone marrow biopsy, a skin punch biopsy, hair follicle collection, a buccal swab, and/or saliva collection for NGS analysis on study. Patients may additionally undergo clinical assessment and may receive genetic counseling on study.
Intervention: Genetic Counseling (Other)
Screening (biospecimen collection, NGS analysis)
Participants may undergo blood sample collection, a bone marrow biopsy, a skin punch biopsy, hair follicle collection, a buccal swab, and/or saliva collection for NGS analysis on study. Patients may additionally undergo clinical assessment and may receive genetic counseling on study.
Intervention: Quality-of-Life Assessment (Other)
Screening (biospecimen collection, NGS analysis)
Participants may undergo blood sample collection, a bone marrow biopsy, a skin punch biopsy, hair follicle collection, a buccal swab, and/or saliva collection for NGS analysis on study. Patients may additionally undergo clinical assessment and may receive genetic counseling on study.
Intervention: Electronic Health Record Review (Other)
Outcomes
Primary Outcomes
Occurrence of cytopenias
Time Frame: Up tof 5 years
Assessed by the number of subjects whose cytopenias are persistent or progressive over the course of the study
Secondary Outcomes
- Occurrence of myelodysplastic syndrome (MDS)(Up to 5 years)
- Occurrence of acute myeloid leukemia (AML)(Up to 5 years)
Investigators
Mrinal S. Patnaik, M.B.B.S.
Principal Investigator
Mayo Clinic