Myeloid MalignancyNCT02958462
Pre-myeloid Cancer and Bone Marrow Failure Clinic Study
A study testing Biospecimen Collection, Bone Marrow Biopsy and Punch Biopsy in people with Myeloid Malignancy and Inherited Bone Marrow Failure Syndrome, run by Mayo Clinic at 3 sites in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Myeloid Malignancy, Inherited Bone Marrow Failure Syndrome, Clonal Expansion
- What is being tested?
- Biospecimen Collection, Bone Marrow Biopsy and Punch Biopsy
- Type of treatment
- Surgery or procedure
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 2,000 participants
- Where
- 3 sitesUnited States
- Study dates
- 16 Jan 2017to 15 Sep 2035
- Phase
- Interventional
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- 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
Who cannot join
- Patients under 18 years of age
Trial locations and contacts
3 sites in 1 country. Contact the study team or a site near you to ask about taking part.
United States3 sites, 3 recruiting
- Recruiting
Mayo Clinic in Florida
Jacksonville, Florida, 32224-9980
Clinical Trials Referral Office, 855-776-0015, mayocliniccancerstudies@mayo.edu
James M. Foran, M.D.
- Recruiting
Mayo Clinic in Rochester
Rochester, Minnesota, 55905
Clinical Trials Referral Office, 855-776-0015, mayocliniccancerstudies@mayo.edu
Mrinal S. Patnaik, MBBS
- Recruiting
Mayo Clinic in Arizona
Scottsdale, Arizona, 85259
Clinical Trials Referral Office, 855-776-0015, mayocliniccancerstudies@mayo.edu
Yael N. Kusne, M.D., Ph.D.
About this study
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.
Read the detailed description
PRIMARY OBJECTIVES:
- 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.
- 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
- Myeloid Malignancy, Inherited Bone Marrow Failure Syndrome, Clonal Expansion, Cytopenia, Bone Marrow Failure Syndrome, Clonal Cytopenia of Undetermined Significance
- Being tested
- Biospecimen Collection, Bone Marrow Biopsy, Punch Biopsy, Buccal Swab, Clinical Evaluation
- Medical subject headings
- Congenital Bone Marrow Failure Syndromes, Cytopenia, Bone Marrow Failure Disorders, Hematologic Neoplasms, Neoplastic Syndromes, Hereditary
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Biospecimen CollectionProcedure or surgery
Also called Biological Sample Collection, Biospecimen Collected, Specimen Collection
Undergo blood sample, hair follicle, and saliva collection
Bone Marrow BiopsyProcedure or surgery
Also called Biopsy of Bone Marrow, Biopsy, Bone Marrow
Undergo a bone marrow biopsy
Punch BiopsyProcedure or surgery
Also called BIOPSY, PUNCH, Punch Biopsy of Skin
Undergo a skin punch biopsy
Buccal SwabProcedure or surgery
Also called Buccal Scraping, Buccal Smear, Buccal swab/scraping, Buccal Swabbing
Undergo a saliva or buccal swab
Clinical EvaluationOther
Also called Clinical Assessment
Undergo clinical assessment
Genetic CounselingOther
Receive genetic counseling
Quality-of-Life AssessmentOther
Also called Quality of Life Assessment, QOL Assessment
Ancillary studies
Electronic Health Record ReviewOther
Ancillary studies
| Study group | Role | What they receive |
|---|---|---|
| Screening (biospecimen collection, NGS analysis) | Experimental | 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. Receives: Procedure: Biospecimen Collection; Procedure: Bone Marrow Biopsy; Procedure: Punch Biopsy; Procedure: Buccal Swab; Other: Clinical Evaluation; Other: Genetic Counseling; Other: Quality-of-Life Assessment; Other: Electronic Health Record Review |
What is being measured
The primary outcome is the main question the study is designed to answer.
Occurrence of cytopenias
Assessed by the number of subjects whose cytopenias are persistent or progressive over the course of the study
Measured: Up tof 5 years
Secondary outcomes (2)
Occurrence of myelodysplastic syndrome (MDS)
Assessed by the number of subjects who have evolved to MDS over the course of the study
Measured: Up to 5 years
Occurrence of acute myeloid leukemia (AML)
Assessed by the number of subjects who have evolved to AML over the course of the study
Measured: Up to 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Nov 2016 (estimated)
- Study start16 Jan 2017
- Primary completion15 Sep 2030 (estimated)
- Study completion15 Sep 2035 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Myeloid MalignancyStudies of the same condition, open and under way.
- More trials run by Mayo ClinicThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Screening
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 2,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Mayo Clinic
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Mrinal S. Patnaik, M.B.B.S., Mayo Clinic
- Investigators
- Mrinal S. Patnaik, MBBS, Principal investigator, Mayo Clinic
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02958462
- Sponsor's protocol ID
- 16-004173
- Other IDs
- NCI-2022-07824
- Status last verified
- Mar 2025
- First submitted
- 4 Nov 2016
- Last updated
- 23 Feb 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No