NCT05434598 · Washington University School of Medicine
Whole Genome Sequencing (ChromoSeq) as an Adjunct to Conventional Genomic Profiling in MDS
What this study is about
This is a single institution, forward-looking 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).
View original scientific description
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).
Interventions
DEVICE
ChromoSeq
Novel, streamlined whole genome sequencing approach
Primary outcome measures
Rate of assay success on first attempt between ChromoSeq and conventional cytogenetics as measured by total number of recurrent structural variants identified
Time frame: 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
Time frame: 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%.
Proportion of failed ChromoSeq assays
Time frame: 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.
Who can participate
This study lists these criteria on ClinicalTrials.gov. A study coordinator reviews eligibility during screening — this page does not determine whether you qualify.
Inclusion criteria
- 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.)
Exclusion criteria
- Patient: -Younger than 18 years of age Exclusion Criteria Physician -Does not treat patients at Washington University School of Medicine
Where
- St Louis, Missouri
Collaborators
American Society of Hematology, Edward P. Evans Foundation, National Cancer Institute (NCI)
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Frequently asked questions
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Clinical trials follow strict safety guidelines and ethical standards. Trials must be reviewed and approved, and participants are closely monitored by medical professionals throughout the study. You can withdraw at any time if you choose.
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Will I receive a placebo instead of treatment?
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Data: ClinicalTrials.gov · synced Dec 11, 2025 · Source of record for eligibility and locations