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

Leukemia

Myeloproliferative Disorders

Acute Disease

Neoplasms by Histologic Type

Precancerous Conditions

Disease Attributes

Acute Graft Versus Host Disease

Chronic Myeloproliferative Disorders

Blood sampling

Bone marrow aspirate

Skin biopsy

Buccal swab

Dominique Genre, MD

Jihane Pakradouni, PharmD,PhD

Norbert VEY, MD,PhD

Norbert Vey, MD,PhD

HEMATO-BIO-IPC-2013-015 is a monocenter prospective longitudinal study. Our aim is to define predictive clinical and biological factors in acute leukemia, myelodysplastic syndromes and myeloproliferative disorders by using genomics, genetics and epigenetics, in vitro and in vivo drug sensitivity studies,and translational immonulogy and immunomonitoring studies.

HEMATO-BIO primary outcome measure is to identify molecular, genomic and epigenetic, pharmacologic and immunophenotypic alteration in acute leukemia, myelodysplastic syndromes and myeloproliferative disorders by collecting, at diagnosis and/or complete remission and/or relapse:

* tumor samples: marrow aspiration, blood sampling.
* non-tumor samples: skin biopsy, buccal swab . from 650 patients treated at our cancer center.

Predictive Clinical and Biological Parameters in Acute Leukemia, Myelodysplastic Syndromes and Myeloproliferative Disorders-HEMATO-BIO-IPC-2013-015

Institut Paoli-Calmettes

Patients must have solid or hematologic cancer. for treatment on a . Patients must have undergone pathologic confirmation of their tumor at MSKCC and have either: 1) archival tissue available for analysis, 2) have fresh tissue collection planned as routine standard of care biopsy or part of a research biopsy under another clinical trial(or peripheral blood / bone marrow collection in the case of hematologic cancers) outside of the context of this protocol, or 3)archival tissue .available at an outside facility. For prospective genotyping tissue specimens from the primary site, a metastasis or recurrence will be used based upon the availability and quality of tissue.

Part A is the molecular profiling of tumors. No new tumor biopsies will be performed in the context of Part A. If a pt does have a surgery or tumor biopsy , leftover tissue (or an additional core) from this procedure may be used for molecular profiling. Clinical Assay(s): This testing will be performed in the CLIA-certified Molecular Diagnostics Service laboratory. Research Assay(s): This protocol will also be used as a platform to pilot the use of investigational "next-generation" profiling technologies .including whole exome sequencing, whole genome sequencing RNA sequencing cell-free tumor DNA/RNA sequencing, proteomics, \& others. To confirm the findings obtained on these assays using an orthogonal assay, additional sequencing such as Sanger,Sequenom, MiSeq or IMPACT testing may be utilized in either the CLIA or non-CLIA setting Part B: DTC Cohort Pts successfully registered to Part B of this study will be eligible for minimal risk collection \& research biopsies.

molecular profiling of tumors

Part C: Clinical Germline Analysis Participants who have donated a matched normal peripheral blood sample for comparison to somatic sequence will be offered the opportunity to have that germline DNA sample analyzed for the presence of deleterious or likely deleterious mutations in genes on the MSK-IMPACT panel that are known to be linked to inherited susceptibility or that are included on consensus lists of genes that should undergo secondary analysis (e.g. the "ACMG list").

Part D: Germline Profiling for Individuals at Elevated Cancer Risk

Clinical Germline Analysis

David Solit, MD

Zsofia Stadler, MD

Christopher Iannuzzi, MD

Andrew Salner, MD

Linda Vahdat, MD

John Diaz, MD

Monica Reddy Muppidi, MD

Richard Zuniga, MD

Jason Gonsky, MD

Margaret Kemeny, MD

Anitha Srinivasan, MD

Lewis P. Kampel, MD

Suresh Nair, MD

The purpose of this study is to determine whether certain genes in cancer may be abnormal. When a gene is abnormal this is called a mutation. Most mutations in cancer cells are not inherited (passed down from parents) but happen after birth in the cancer itself. Most cancers have many mutations. Some of these mutations are important for the cancer cells to survive while others are not. The goal of this study is test cancer for certain mutations using leftover tumor tissue from a previous surgery or biopsy. Participants will also be asked to provide a tube of blood cheek (also known as a buccal) swab, or a saliva sample that contains normal genes for comparison.

The purpose of Part B of this study is to:

Understand how genetic changes in tumor effect the chance of responding to experimental cancer treatment. Understand how the genes in the tumor change overtime in response to targeted cancer treatment.

Genomic Profiling in Cancer Patients

"Actionable" mutations will be defined as either 1) a mutation shown to predict for sensitivity or resistance to a drug FDA approved for use in another cancer indication or 2) a mutation which predicts for sensitivity or resistance in preclinical models to an investigational class of drugs.

The Bioinformatics Core will assist in interpreting data generated by next-generation sequencing techniques such as WES and WGS.

underlying response and resistance (de-novo and acquired) to targeted therapy. The research assay(s) used to accomplish this will vary based on the clinical setting and tissue available and may include Sanger, Sequenom, MiSeq, exon-capture (ie: IMPACT), whole exome, and whole genome sequencing.

in a subset of specimens with no identifiable culpritic genomic alterations on highly-multiplexed next-generation sequencing (i.e.: IMPACT testing) by using even more comprehensive investigational profiling techniques such as whole exome sequencing, whole genome sequencing or RNA sequencing

Memorial Sloan Kettering Cancer Center

Research tissue specimen will be obtained during the patient's clinical biopsy or clinical tumor resection, if feasible.

Up to 50 mL of research blood will be drawn around the time of the procedure. Additional blood may be collected in selected cases, as warranted, to monitor disease recurrence/remission or perform additional testing

Buccal swab may be requested, if necessary, to generate germline data.

Tissue Collection

Up to 50 mL of research blood will be drawn around the time of the procedure. Additional blood may be collected in selected cases, as warranted, to monitor disease recurrence/remission or perform additional

Blood Collection

Tanya M. Schnick

Aaron S. Mansfield, M.D.

Study goal is to collect tumor specimens that may inform cancer biology to eventually improve outcomes for patients with cancer. This proposal represents a highly collaborative effort to support cancer research with the goal of developing novel therapeutic strategies using patient derived preclinical models.

This study is being done to collect samples of tumor tissues, matched normal tissue when possible, and approximately 50 mL of blood.

The objective of this study is to collect tumor specimens (tumor tissues, matched normal tissue when possible, and 50 mL of blood) that may inform cancer biology to eventually improve outcomes for patients with cancer. Additionally, relevant specimens that were previously collected under an IRB approved protocol (13-000942), will be used with approval of the PI of that protocol and patient consent for participation in this protocol.

The collected tissue specimens will be used to develop preclinical models; i.e., cell lines, patient derived micro-cancer models as well as patient-derived xenograft models. In this study we may profile tumors using genomic and/or proteomic approaches to identify targetable alterations in tumor tissue from patients. To assure that the derived cell lines and micro-cancer models have not been cross contaminated during development with other models in development, DNA sequencing may be used. Using these preclinical models, we will test new therapies in vitro, or in vivo in mice in order to identify novel therapeutics as well as interrogate genes for their role in tumor biology. Guidance for molecular targeted therapy will involve gene analysis of oncogenes and tumor suppressor genes. Results from these studies may provide the rationale for the design of future novel clinical trials. The evaluation of these preclinical models may lead to predictive value related to patient response to therapy as well as clinical trials. With consent, these models may be shared with other investigators internal or external to Mayo Clinic.

The collected tissue specimens will be used to develop preclinical models; i.e., cell lines, patient derived micro-cancer models as well as patient-derived xenograft models. In this study we may profile tumors using genomic and/or proteomic approaches to identify targetable alterations in tumor tissue from patients. To assure that the derived cell lines and micro-cancer models have not been cross contaminated during development with other models in development, DNA sequencing may be used.

Patient Derived Preclinical Models

Sequencing data from DNA and RNA will be integrated into a visualization platform to allow individualized study of patient tumor mutations, rearrangements, and RNA expression. Genomically informed analysis will be employed to select potential targets for drug screening in the patient-derived 3D models and determine how many specimens are able to grow as 3D models. In some cases, immunostain results may be analyzed for correlation to RNA expression levels.

Sequencing data from DNA and RNA will be integrated into a visualization platform to allow individualized study of patient tumor mutations, rearrangements, and RNA expression. Genomically informed analysis will be employed to select potential targets for drug screening in the patient-derived 3D models. In some cases, immunostain results may be analyzed for correlation to RNA expression levels.

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization
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
Predictive Clinical and Biological Parameters in Acute Leukemia, Myelodysplastic Syndromes and Myeloproliferative Disorders-HEMATO-BIO-IPC-2013-015	NCT02320656	Acute Leukemia Myelodysplastic... Myeloproliferat...	Blood sampling Bone marrow asp... Skin biopsy Buccal swab	18 Years -	Institut Paoli-Calmettes
Genomic Profiling in Cancer Patients	NCT01775072	Solid Tumors Hematologic Can...	molecular profi... Clinical Germli...	-	Memorial Sloan Kettering Cancer Center
Patient Derived Preclinical Models	NCT05324553	Cancer	Tissue Collecti... Blood Collectio... Buccal Swab	18 Years -	Mayo Clinic

Spots Global Cancer Trial Database for buccal swab

Every month we try and update this database with for buccal swab cancer trials from around the world to help patients and their families find trials that might be right for them.
We offer this 100% free of charge and do not endorse any of the trials listed here, we hope it helps you or a loved one.

Spots Global Cancer Trial Database for buccal swab

Every month we try and update this database with for buccal swab cancer trials from around the world to help patients and their families find trials that might be right for them. We offer this 100% free of charge and do not endorse any of the trials listed here, we hope it helps you or a loved one.

Every month we try and update this database with for buccal swab cancer trials from around the world to help patients and their families find trials that might be right for them.
We offer this 100% free of charge and do not endorse any of the trials listed here, we hope it helps you or a loved one.