Pre-myeloid Cancer and Bone Marrow Failure Clinic Study
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- Mayo Clinic
- 入组人数
- 2,000
- 试验地点
- 3
- 主要终点
- Occurrence of cytopenias
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Screening
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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
排除标准
- •Patients under 18 years of age
研究组 & 干预措施
Screening (biospecimen collection, NGS analysis)
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.
干预措施: Biospecimen Collection (Procedure)
Screening (biospecimen collection, NGS analysis)
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.
干预措施: Bone Marrow Biopsy (Procedure)
Screening (biospecimen collection, NGS analysis)
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.
干预措施: Punch Biopsy (Procedure)
Screening (biospecimen collection, NGS analysis)
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.
干预措施: Buccal Swab (Procedure)
Screening (biospecimen collection, NGS analysis)
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.
干预措施: Clinical Evaluation (Other)
Screening (biospecimen collection, NGS analysis)
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.
干预措施: Genetic Counseling (Other)
Screening (biospecimen collection, NGS analysis)
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.
干预措施: Quality-of-Life Assessment (Other)
Screening (biospecimen collection, NGS analysis)
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.
干预措施: Electronic Health Record Review (Other)
结局指标
主要结局
Occurrence of cytopenias
时间窗: Up tof 5 years
Assessed by the number of subjects whose cytopenias are persistent or progressive over the course of the study
次要结局
- Occurrence of myelodysplastic syndrome (MDS)(Up to 5 years)
- Occurrence of acute myeloid leukemia (AML)(Up to 5 years)
研究者
Mrinal S. Patnaik, M.B.B.S.
Principal Investigator
Mayo Clinic