Symptoms and General Pathology

All Conditions

Neoplasms

Blood and Lymph Conditions

Diseases and Abnormalities at or Before Birth

Urinary Tract, Sexual Organs, and Pregnancy Conditions

Rare Diseases

Syndrome

Hematologic Neoplasms

Cytopenia

Preleukemia

Myelodysplastic Syndromes

Bone Marrow Failure Disorders

Pancytopenia

Neoplastic Syndromes, Hereditary

Congenital Bone Marrow Failure Syndromes

Anemia

Leukopenia

Thrombocytopenia

Anemia, Aplastic

Hemoglobinuria

Hemoglobinuria, Paroxysmal

Bone Marrow Diseases

Hematologic Diseases

Leukocyte Disorders

Blood Platelet Disorders

Hemolysis

Anemia, Hemolytic

Infant, Newborn, Diseases

Genetic Diseases, Inborn

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.

Undergo blood sample, hair follicle, and saliva collection

Biospecimen Collection

Bone Marrow Biopsy

Punch Biopsy

Buccal Swab

Clinical Evaluation

Genetic Counseling

Quality-of-Life Assessment

Electronic Health Record Review

Brittany Burnap

Clinical Trials Referral Office

Cecilia Y. Arana Yi, M.D.

James M. Foran, M.D.

Mrinal S. Patnaik, MBBS

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.

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.

Pre-myeloid Cancer and Bone Marrow Failure Clinic Study

Assessed by the number of subjects whose cytopenias are persistent or progressive over the course of the study

Assessed by the number of subjects who have evolved to MDS over the course of the study

Assessed by the number of subjects who have evolved to AML over the course of the study

Mayo Clinic

Principal Investigator

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization	Link
Pre-myeloid Cancer and Bone Marrow Failure Clinic Study	NCT02958462	Myeloid Maligna... Inherited Bone ... Clonal Expansio... Cytopenia Bone Marrow Fai... Clonal Cytopeni... Clonal Hematopo... Hematologic Neo... Hematopoietic a... Hereditary Neop... Idiopathic Cyto... Idiopathic Dysp... Low Risk Myelod...	Biospecimen Col... Bone Marrow Bio... Punch Biopsy Buccal Swab Clinical Evalua... Genetic Counsel... Quality-of-Life... Electronic Heal...	18 Years -	Mayo Clinic
Pre-myeloid Cancer and Bone Marrow Failure Clinic Study	NCT02958462	Myeloid Maligna... Inherited Bone ... Clonal Expansio... Cytopenia Bone Marrow Fai... Clonal Cytopeni... Clonal Hematopo... Hematologic Neo... Hematopoietic a... Hereditary Neop... Idiopathic Cyto... Idiopathic Dysp... Low Risk Myelod...	Biospecimen Col... Bone Marrow Bio... Punch Biopsy Buccal Swab Clinical Evalua... Genetic Counsel... Quality-of-Life... Electronic Heal...	18 Years -	Mayo Clinic

Spots Global Cancer Trial Database for idiopathic dysplasia of uncertain significance