A Prospective Study of Whole Genome Sequencing (ChromoSeq) as an Adjunct to Conventional Genomic Profiling in MDS
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 60
- 试验地点
- 1
- 主要终点
- Proportion of failed ChromoSeq assays
研究概览
简要总结
This is a single institution, prospective study of the whole genome sequencing assay, ChromoSeq. Using prospectively collected patient data, coupled with physician surveys, the investigators seek to determine the feasibility of implementing ChromoSeq in addition to standard genomic testing, for patients with the diagnosis of myelodysplastic syndrome (MDS).
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Parallel
- 主要目的
- Diagnostic
- 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
- 是
入选标准
- •Diagnosis of MDS, or a clinical suspicion for a new diagnosis of MDS, for whom routine diagnostic testing is requested or planned to be requested.
- •Seen in the outpatient setting.
- •Not been previously treated with disease-modifying therapy (such as lenalidomide or hypomethylating agents).
- •Note: Patients who have received transfusional support, erythropoietin-stimulating agents, growth factor support, or luspatercept are eligible.
- •At least 18 years of age.
- •Able to understand and willing to sign an IRB approved written informed consent document.
- •Inclusion Criteria Physician:
- •Treating physician at Washington University School of Medicine who directs therapy for individuals with hematologic malignancies.
- •Able and willing to complete standardized questionnaires about stakeholder perceptions of ChromoSeq during the ChromoSeq implementation process. (Written documentation of informed consent is not required.)
排除标准
- •Younger than 18 years of age
- •Exclusion Criteria Physician
- •Does not treat patients at Washington University School of Medicine
研究组 & 干预措施
Patients: ChromSeq
ChromoSeq will be performed on bone marrow or peripheral blood DNA from consented patients in parallel with the standard of care cytogenetics, FISH, and the MyeloSeq gene panel obtained from that sample, in a CLIA licensed environment using CLIA-compliant ChromoSeq procedures.
干预措施: ChromoSeq (Device)
Stakeholders (Treating Physicians)
Stakeholders (treating physicians) will complete surveys/questionnaires
结局指标
主要结局
Proportion of failed ChromoSeq assays
时间窗: Through completion of all ChromoSeq tests (estimated to be 24 months)
* As compared to failed standard of care genomic profiling assays * The proportion of first-run failures for ChromoSeq assays will be compared to the proportion of failed standard of care genomic profiling assays using a directional Fisher's exact test.
Rate of assay success on first attempt between ChromoSeq and conventional cytogenetics as measured by total number of recurrent structural variants identified
时间窗: Through completion of all ChromoSeq tests (estimated to be 24 months)
-The number of recurrent structural variants detected by ChromoSeq will be compared to those detected by conventional cytogenetics using two non-inferiority tests for dependent samples using non-inferiority margin of 1%.
Rate of assay success on first attempt between ChromoSeq and conventional cytogenetics as measured by total number of copy number alterations identified
时间窗: Through completion of all ChromoSeq tests (estimated to be 24 months)
The number of copy number alterations detected by ChromoSeq will be compared to those detected by conventional cytogenetics using two non-inferiority tests for dependent samples using non-inferiority margin of 1%.
次要结局
- Stakeholder perceptions of ChromoSeq(Through 1 month after generation of ChromoSeq for all patients enrolled (estimated to be 25 months))