Pre-myeloid Cancer and Bone Marrow Failure Clinic Study
Study Overview
Status
Conditions
- Hematologic Neoplasms
- Myeloid Malignancy
- Cytopenia
- Bone Marrow Failure Syndrome
- Clonal Cytopenia of Undetermined Significance
- Clonal Hematopoiesis of Indeterminate Potential
- Low Risk Myelodysplastic Syndrome
- Inherited Bone Marrow Failure Syndrome
- Clonal Expansion
- Hereditary Neoplastic Syndrome
- Hematopoietic and Lymphatic System Neoplasm
- Idiopathic Cytopenia of Undetermined Significance
- Idiopathic Dysplasia of Uncertain Significance
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.
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.
Study Type
Enrollment (Estimated)
Phase
- Not Applicable
Contacts and Locations
Study Contact
- Name: Clinical Trials Referral Office
- Phone Number: 855-776-0015
- Email: mayocliniccancerstudies@mayo.edu
Study Contact Backup
- Name: Dani Rud
- Phone Number: 507-284-0228
- Email: cimpmlresearch@mayo.edu
Study Locations
-
-
Arizona
-
Scottsdale, Arizona, United States, 85259
- Recruiting
- Mayo Clinic in Arizona
-
Contact:
- Clinical Trials Referral Office
- Phone Number: 855-776-0015
- Email: mayocliniccancerstudies@mayo.edu
-
Principal Investigator:
- Yael N. Kusne, M.D., Ph.D.
-
-
Florida
-
Jacksonville, Florida, United States, 32224-9980
- Recruiting
- Mayo Clinic in Florida
-
Contact:
- Clinical Trials Referral Office
- Phone Number: 855-776-0015
- Email: mayocliniccancerstudies@mayo.edu
-
Principal Investigator:
- James M. Foran, M.D.
-
-
Minnesota
-
Rochester, Minnesota, United States, 55905
- Recruiting
- Mayo Clinic in Rochester
-
Contact:
- Clinical Trials Referral Office
- Phone Number: 855-776-0015
- Email: mayocliniccancerstudies@mayo.edu
-
Principal Investigator:
- Mrinal S. Patnaik, MBBS
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Description
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
Study Plan
How is the study designed?
Design Details
- Primary Purpose: Screening
- Allocation: N/A
- Interventional Model: Single Group Assignment
- Masking: None (Open Label)
Arms and Interventions
Participant Group / Arm |
Intervention / Treatment |
|---|---|
|
Experimental: 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.
|
Ancillary studies
Other Names:
Ancillary studies
Receive genetic counseling
Undergo a skin punch biopsy
Other Names:
Undergo blood sample, hair follicle, and saliva collection
Other Names:
Undergo a bone marrow biopsy
Other Names:
Undergo a saliva or buccal swab
Other Names:
Undergo clinical assessment
Other Names:
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
|---|---|---|
|
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
|
Up tof 5 years
|
Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
|---|---|---|
|
Occurrence of myelodysplastic syndrome (MDS)
Time Frame: Up to 5 years
|
Assessed by the number of subjects who have evolved to MDS over the course of the study
|
Up to 5 years
|
|
Occurrence of acute myeloid leukemia (AML)
Time Frame: Up to 5 years
|
Assessed by the number of subjects who have evolved to AML over the course of the study
|
Up to 5 years
|
Collaborators and Investigators
Sponsor
Investigators
- Principal Investigator: Mrinal S. Patnaik, MBBS, Mayo Clinic
Publications and helpful links
Helpful Links
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Estimated)
Study Completion (Estimated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimated)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
- Neoplasms by Site
- Neoplasms
- Genetic Diseases, Inborn
- Infant, Newborn, Diseases
- Hematologic Diseases
- Bone Marrow Diseases
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities
- Hemic and Lymphatic Diseases
- Bone Marrow Failure Disorders
- Congenital Bone Marrow Failure Syndromes
- Cytopenia
- Hematologic Neoplasms
- Neoplastic Syndromes, Hereditary
- Investigative Techniques
- Clinical Laboratory Techniques
- Diagnostic Techniques and Procedures
- Diagnosis
- Surgical Procedures, Operative
- Cytological Techniques
- Cytodiagnosis
- Health Services
- Health Care Facilities Workforce and Services
- Diagnostic Techniques, Surgical
- Genetic Services
- Biopsy
- Specimen Handling
- Genetic Counseling
Other Study ID Numbers
- 16-004173
- NCI-2022-07824 (Registry Identifier: CTRP (Clinical Trials Reporting Program))
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
product manufactured in and exported from the U.S.
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