Recruiting

ChromoSeq

Sponsor:

Washington University School of Medicine

Code:

NCT05434598

Conditions

Whole Genome Sequencing

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 diagnosis of myelodysplastic syndrome (MDS).

Conditions

Whole Genome Sequencing

Myelodysplastic Syndromes

Study ID

NCT05434598

Start date

Jul 27, 2022

Status verified date

Oct, 2026

Completion date

Aug 31, 2027

Anticipated

Primary completion date

Jul 31, 2027

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 18+

Healthy Volunteers: Accepted

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

Study Design

Enrollment

100 participants

Anticipated

Allocation

Non randomized

Intervention Model

Parallel Assignment

Primary purpose

Diagnostic

Interventions and Outcome Measures

Arms

experimental: Arm 1 MDS Patients: ChromoSeq

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.

experimental: Arm 2 MDS Patients: ChromoSeq

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.

no intervention: Stakeholders (Treating Physicians)

Stakeholders (treating physicians) will complete surveys/questionnaires

Interventions

ChromoSeq

Novel, streamlined whole genome sequencing approach

Primary outcome measure

  • Rate of assay success on first attempt compared 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, patient involvement 1 day) ]
  • Rate of assay success on first attempt compared 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, patient involvement 1 day) ]
  • Proportion of failed ChromoSeq assays [ Time Frame: Through completion of all ChromoSeq tests (estimated to be 24 months, patient involvement 1 day) ]
  • IPSS-M risk score compared between ChromoSeq and conventional standard of care genomic profiling (Arm 2 only) [ Time Frame: Through completion of all ChromoSeq tests (estimated to be 24 months, patient involvement 1 day) ]

Central Contacts and Locations

Central contacts

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

314-362-9405mjacoby@wustl.edu

Locations

Washington University School of Medicine

Recruiting

St Louis, Missouri, United States, 63110

Contacts

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

314-362-9405mjacoby@wustl.edu

Principal Investigator:

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

More Information

Sponsor

Washington University School of Medicine

Last update posted

Oct 13, 2026

Last verified

Oct, 2026

Trial information was received from ClinicalTrials.gov and was last updated on 2026-10-23. This information was provided to ClinicalTrials.gov by Washington University School of Medicine on 2026-10-13. Recruitment status is synced daily from ClinicalTrials.gov and may not reflect the sponsor's current status. Confirm during your call.