Pre-myeloid Cancer and Bone Marrow Failure Clinic Study

Hematologic Neoplasms Clinical Trial

Official title:

Pre-myeloid Cancer and Bone Marrow Failure Clinic Study

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT02958462
• Other study ID #: 16-004173
• Secondary ID: NCI-2022-07824
• Status: Recruiting
• Phase: N/A
• Start date: January 16, 2017
• Est. completion date: September 15, 2035

Study information

• Verified date: March 2024
• Source: Mayo Clinic
• Contact: Brittany Burnap
• Phone: 507-293-1764
• Email: cimpmlresearch[@]mayo.edu
• Is FDA regulated: No
• Study type: Interventional

Clinical 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. 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 2000
• Est. completion date: September 15, 2035
• Est. primary completion date: September 15, 2030
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Anemia
• Anemia, Aplastic
• Bone Marrow Failure Disorders
• Bone Marrow Failure Syndrome
• Clonal Cytopenia of Undetermined Significance
• Clonal Expansion
• Clonal Hematopoiesis of Indeterminate Potential
• Congenital Bone Marrow Failure Syndromes
• Cytopenia
• Hematologic Neoplasms
• Hemoglobinuria, Paroxysmal
• Hereditary Neoplastic Syndrome
• Inherited Bone Marrow Failure Syndrome
• Leukopenia
• Low Risk Myelodysplastic Syndrome
• Myelodysplastic Syndromes
• Myeloid Malignancy
• Neoplasms
• Neoplastic Syndromes, Hereditary
• Pancytopenia
• Syndrome
• Thrombocytopenia

Intervention

Procedure:
• Biospecimen Collection
Undergo blood sample, hair follicle, and saliva collection
• Bone Marrow Biopsy
Undergo a bone marrow biopsy
• Punch Biopsy
Undergo a skin punch biopsy
• Buccal Swab
Undergo a saliva or buccal swab

Other:
• Clinical Evaluation
Undergo clinical assessment
• Genetic Counseling
Receive genetic counseling
• Quality-of-Life Assessment
Ancillary studies
• Electronic Health Record Review
Ancillary studies

Locations

Country	Name	City	State
United States	Mayo Clinic in Florida	Jacksonville	Florida
United States	Mayo Clinic in Rochester	Rochester	Minnesota
United States	Mayo Clinic in Arizona	Scottsdale	Arizona

Sponsors (1)

Lead Sponsor	Collaborator
Mayo Clinic

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Occurrence of cytopenias	Assessed by the number of subjects whose cytopenias are persistent or progressive over the course of the study	Up tof 5 years
Secondary	Occurrence of myelodysplastic syndrome (MDS)	Assessed by the number of subjects who have evolved to MDS over the course of the study	Up to 5 years
Secondary	Occurrence of acute myeloid leukemia (AML)	Assessed by the number of subjects who have evolved to AML over the course of the study	Up to 5 years