Whole Genome Sequencing (ChromoSeq) for Myelodysplastic Syndromes

This study is looking at a new, streamlined whole genome sequencing (WGS) method called ChromoSeq. WGS is a test that looks at all of your genes. The study wants to see if ChromoSeq can be used along with standard genetic tests for people with myelodysplastic syndromes (MDS), a group of blood cancers. You may be able to join if you are 18 or older, have been diagnosed with MDS or doctors suspect you have it, and have not yet received treatment like lenalidomide or hypomethylating agents. The researchers will measure how often ChromoSeq successfully finds genetic changes compared to standard tests. This study is currently recruiting participants.

Study design
This is an interventional study with a planned enrollment of 60 participants. It is a single-institution study, meaning it is conducted at one location.
What's involved
Not specified in the trial record.
Compensation
Not stated in the trial record.
Follow-up
The study will measure outcomes through the completion of all ChromoSeq tests, which is estimated to be 24 months.

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NCT05434598

Whole Genome Sequencing (ChromoSeq) as an Adjunct to Conventional Genomic Profiling in MDS

Recruiting
NAAges 18+InterventionalDiagnostic
Washington University School of Medicine
~60 participants
Updated 2025-12-11 on ClinicalTrials.gov
What's tested:ChromoSeq

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Rate of assay success on first attempt between ChromoSeq and conventional cytogenetics as measured by total number of recurrent structural variants identified
Measured over Through completion of all ChromoSeq tests (estimated to be 24 months)
+2 more outcomes measured
Whole Genome Sequencing
Myelodysplastic Syndromes
1 sites across 1 states
Missouri1
  • Meagan A Jacoby, M.D., Ph.D. · PRINCIPAL_INVESTIGATOR · Washington University School of Medicine

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Eligibility criteria

Inclusion

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).
Able to understand and willing to sign an IRB approved written informed consent document.
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

Younger than 18 years of age
Does not treat patients at Washington University School of Medicine
  • Rate of assay success on first attempt between ChromoSeq and conventional cytogenetics as measured by total number of recurrent structural variants identifiedThrough 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 identifiedThrough 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 assaysThrough 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.