NCT02958462

Pre-myeloid Cancer and Bone Marrow Failure Clinic Study

• Status: Recruiting
• Phase: N/A
• Study type: Interventional
• Enrollment: 2,000 (estimated)
• Sponsor: Mayo Clinic · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

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. 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

• 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

Interventions

Type	Name	Description
PROCEDURE	Biospecimen Collection	Undergo blood sample, hair follicle, and saliva collection
PROCEDURE	Bone Marrow Biopsy	Undergo a bone marrow biopsy
PROCEDURE	Punch Biopsy	Undergo a skin punch biopsy
PROCEDURE	Buccal Swab	Undergo a saliva or buccal swab
OTHER	Clinical Evaluation	Undergo clinical assessment
OTHER	Genetic Counseling	Receive genetic counseling
OTHER	Quality-of-Life Assessment	Ancillary studies
OTHER	Electronic Health Record Review	Ancillary studies

Timeline

• Start date: 2017-01-16
• Primary completion: 2030-09-15
• Completion: 2035-09-15
• First posted: 2016-11-08
• Last updated: 2026-02-23

Locations

3 sites across 1 country: United States