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NCT Number: NCT05434598

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

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).

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Key information

Conditions

Whole Genome Sequencing Bone Marrow Diseases Hematologic Diseases Hemic and Lymphatic Diseases Myelodysplastic Syndromes

Age range

18 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Washington University School of Medicine

St Louis, Missouri, 63110, United States

Location status: Recruiting

Location contact

David H Spencer, M.D., Ph.D.

SUB_INVESTIGATOR

Mary C Politi, Ph.D.

SUB_INVESTIGATOR

Matthew J Walter, M.D.

SUB_INVESTIGATOR

Matthew Schuelke

SUB_INVESTIGATOR

Meagan A Jacoby, M.D., Ph.D.

CONTACT

[email protected]

314-362-9405

Meagan A Jacoby, M.D., Ph.D.

PRINCIPAL_INVESTIGATOR

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Patient:

  • 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

Treatment and study plan

ChromoSeq

Device

Novel, streamlined whole genome sequencing approach

Primary outcomes

  1. 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%.

  2. 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%.

  3. 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.

Secondary outcomes

  1. Stakeholder perceptions of ChromoSeq

    Time frame: Through 1 month after generation of ChromoSeq for all patients enrolled (estimated to be 25 months)

    • Using survey responses from treating physicians obtained from per case standardized questionnaires designed using Consolidated Framework for Implementation Research constructs
    • For each case, the corresponding treating physician will be asked to answer a case-based ChromoSeq Implementation Physician Survey. In order to prospectively investigate how the ChromoSeq data was used or could be used by the treating physician for each case, and to evaluate perceptions in real time, the physician will be asked to complete the survey within 1 month of the ChromoSeq and completed conventional genomic profiling results being returned to the chart, whichever is later.

Study contacts

Contact information is provided by the study sponsor or research team.

Meagan A Jacoby, M.D., Ph.D.

CONTACT

[email protected]

314-362-9405

Sponsors and collaborators

Lead sponsor

Washington University School of Medicine

Other

Collaborators

  • American Society of Hematology
  • Edward P. Evans Foundation
  • National Cancer Institute (NCI)

Registry information

Official study title

A Prospective Study of Whole Genome Sequencing (ChromoSeq) as an Adjunct to Conventional Genomic Profiling in MDS

Important dates

Study start
2022
Primary completion
2027
Study completion
2027
First posted
Jun 28, 2022
Registry last updated
Dec 11, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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