Pre-myeloid Cancer and Bone Marrow Failure Clinic Study

NCT ID: NCT02958462

Last Updated: 2025-03-06

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Clinical Phase

NA

Total Enrollment

2000 participants

Study Classification

INTERVENTIONAL

Study Start Date

2017-01-16

Study Completion Date

2035-09-15

Brief Summary

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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

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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.

V. To help better understand the implications of variants of unknown significance using computational biology and functional studies.

VI. To utilize normal, age and sex matched controls to validate genetic and epigenetic testing carried out under this protocol (essential for accurate data analysis).

VII. To assess frailty in patients with clonal hematopoiesis in order to validate genetic and epigenetic testing completed under this protocol as objective assessments of frailty and aging in comparison to standard of care frailty and geriatric assessments.

OUTLINE:

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.

Conditions

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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

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

SCREENING

Blinding Strategy

NONE

Study Groups

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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.

Group Type EXPERIMENTAL

Biospecimen Collection

Intervention Type PROCEDURE

Undergo blood sample, hair follicle, and saliva collection

Bone Marrow Biopsy

Intervention Type PROCEDURE

Undergo a bone marrow biopsy

Punch Biopsy

Intervention Type PROCEDURE

Undergo a skin punch biopsy

Buccal Swab

Intervention Type PROCEDURE

Undergo a saliva or buccal swab

Clinical Evaluation

Intervention Type OTHER

Undergo clinical assessment

Genetic Counseling

Intervention Type OTHER

Receive genetic counseling

Quality-of-Life Assessment

Intervention Type OTHER

Ancillary studies

Electronic Health Record Review

Intervention Type OTHER

Ancillary studies

Interventions

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Biospecimen Collection

Undergo blood sample, hair follicle, and saliva collection

Intervention Type PROCEDURE

Bone Marrow Biopsy

Undergo a bone marrow biopsy

Intervention Type PROCEDURE

Punch Biopsy

Undergo a skin punch biopsy

Intervention Type PROCEDURE

Buccal Swab

Undergo a saliva or buccal swab

Intervention Type PROCEDURE

Clinical Evaluation

Undergo clinical assessment

Intervention Type OTHER

Genetic Counseling

Receive genetic counseling

Intervention Type OTHER

Quality-of-Life Assessment

Ancillary studies

Intervention Type OTHER

Electronic Health Record Review

Ancillary studies

Intervention Type OTHER

Other Intervention Names

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Biological Sample Collection Biospecimen Collected Specimen Collection Biopsy of Bone Marrow Biopsy, Bone Marrow BIOPSY, PUNCH Punch Biopsy of Skin Buccal Scraping Buccal Smear Buccal swab/scraping Buccal Swabbing Clinical Assessment Quality of Life Assessment QOL Assessment

Eligibility Criteria

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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
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Mayo Clinic

OTHER

Sponsor Role lead

Responsible Party

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Mrinal S. Patnaik, M.B.B.S.

Principal Investigator

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Mrinal S. Patnaik, MBBS

Role: PRINCIPAL_INVESTIGATOR

Mayo Clinic

Locations

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Mayo Clinic in Arizona

Scottsdale, Arizona, United States

Site Status RECRUITING

Mayo Clinic in Florida

Jacksonville, Florida, United States

Site Status RECRUITING

Mayo Clinic in Rochester

Rochester, Minnesota, United States

Site Status RECRUITING

Countries

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United States

Central Contacts

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Dani Rud

Role: CONTACT

507-284-0228

Clinical Trials Referral Office

Role: CONTACT

855-776-0015

Facility Contacts

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Clinical Trials Referral Office

Role: primary

855-776-0015

Clinical Trials Referral Office

Role: primary

855-776-0015

Clinical Trials Referral Office

Role: primary

855-776-0015

Related Links

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Other Identifiers

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NCI-2022-07824

Identifier Type: REGISTRY

Identifier Source: secondary_id

16-004173

Identifier Type: -

Identifier Source: org_study_id

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