Recruiting

ChromoSeq

Sponsor:

Washington University School of Medicine

Code:

NCT04986657

Conditions

Whole Genome Sequencing

Acute Myeloid Leukemia

Myelodysplastic Syndromes

Eligibility Criteria

Sex: All

Age: 18+

Healthy Volunteers: Accepted

Interventions

ChromoSeq

Study Details

Brief summary:

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 diagnoses of acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS).

Conditions

Whole Genome Sequencing

Acute Myeloid Leukemia

Myelodysplastic Syndromes

Study ID

NCT04986657

Start date

Sep 17, 2021

Status verified date

Oct, 2025

Completion date

Dec 31, 2027

Anticipated

Primary completion date

Dec 31, 2027

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 18+

Healthy Volunteers: Accepted

Inclusion Criteria Patient

  • Patient with a clinical suspicion for a new diagnosis of AML or MDS for whom the diagnostic molecular testing via the hematologic molecular algorithm (HMA) at BJH is requested or planned to be requested.
  • Adult patients 18 years or older.
  • Ability to understand and willingness 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 usability, and stakeholder perceptions of ChromoSeq during the ChromoSeq implementation process.

Exclusion Criteria Patient

  • Younger than 18 years of age

Exclusion Criteria Physician

  • Does not treat patients at Washington University School of Medicine

Study Design

Enrollment

325 participants

Anticipated

Allocation

Non randomized

Intervention Model

Parallel Assignment

Primary purpose

Diagnostic

Interventions and Outcome Measures

Arms

experimental: Patients: ChromoSeq

ChromoSeq will be performed on bone marrow 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.

no intervention: Stakeholders (Treating Physicians)

-Stakeholders (treating physicians) will complete surveys/questionnaires. As of protocol amendment 10/31/2023, the stakeholders (treating physicians) will no longer be completing surveys/questionnaires.

Interventions

ChromoSeq

Novel, streamlined whole genome sequencing approach

Primary outcome measure

  • Sensitivity of ChromoSeq as measured by total number of recurrent structural variants identified [ Time Frame: Through completion of all ChromoSeq tests (estimated to be 15 months) ]
  • Sensitivity of ChromoSeq as measured by total number of copy number alterations identified [ Time Frame: Through completion of all ChromoSeq tests (estimated to be 15 months) ]
  • Sensitivity of ChromoSeq as measured by number of single nucleotide variants identified [ Time Frame: Through completion of all ChromoSeq tests (estimated to be 15 months) ]
  • Sensitivity of ChromoSeq as measured by number of insertion-deletions identified [ Time Frame: Through completion of all ChromoSeq tests (estimated to be 15 months) ]
  • Determine if risk-stratification using ChromoSeq correlates with overall-survival [ Time Frame: Through completion of follow-up for all patients (estimated to be 63 months) ]
  • Determine if risk-stratification using ChromoSeq correlates with event-free survival [ Time Frame: Through completion of follow-up for all patients (estimated to be 63 months) ]
  • Proportion of cases in which ChromoSeq provides new genetic information to the clinician [ Time Frame: Through completion of all ChromoSeq tests (estimated to be 15 months) ]
  • ChromoSeq turnaround time [ Time Frame: Through completion of all ChromoSeq tests (estimated to be 15 months) ]
  • Proportion of failed ChromoSeq assays [ Time Frame: Through completion of all ChromoSeq tests (estimated to be 15 months) ]

Central Contacts and Locations

Central contacts

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

314-747-8439mjacoby@wustl.edu

Locations

Washington University School of Medicine

Recruiting

St Louis, Missouri, United States, 63110

Contacts

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

314-747-8439mjacoby@wustl.edu

Principal Investigator:

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

More Information

Sponsor

Washington University School of Medicine

Last update posted

Oct 16, 2025

Last verified

Oct, 2025

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by Washington University School of Medicine on 2025-10-16.