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

NCT05434598 | Recruiting DMC FDA Device

• 2 other identifiers: 202206077UH3CA272904
• Study Type: interventional
• Target: 60
• Locations: 1 country
• Sites: 1

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

Outcome Measures

Primary Outcomes (3)

• Rate of assay success on first attempt between ChromoSeq and conventional cytogenetics as measured by total number of recurrent structural variants identified

  -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%.

  Through completion of all ChromoSeq tests (estimated to be 24 months)

• Rate of assay success on first attempt between ChromoSeq and conventional cytogenetics as measured by total number of copy number alterations identified

  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%.

  Through completion of all ChromoSeq tests (estimated to be 24 months)

• Proportion of failed ChromoSeq assays

  * 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.

  Through completion of all ChromoSeq tests (estimated to be 24 months)

Secondary Outcomes (1)

• Stakeholder perceptions of ChromoSeq

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

Study Arms (2)

Patients: ChromSeq

EXPERIMENTAL

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.

Device: ChromoSeq

Stakeholders (Treating Physicians)

NO INTERVENTION

Stakeholders (treating physicians) will complete surveys/questionnaires

Interventions

ChromoSeq DEVICE

Novel, streamlined whole genome sequencing approach

Patients: ChromSeq

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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.
• 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.)

You may not qualify if:

• Younger than 18 years of age
• Does not treat patients at Washington University School of Medicine

Sponsors & Collaborators

• Washington University School of Medicine: lead
• American Society of Hematology: collaborator
• Edward P. Evans Foundation: collaborator
• National Cancer Institute (NCI): collaborator

Study Sites (1)

Washington University School of Medicine

St Louis, Missouri, 63110, United States

RECRUITING

Related Links

• Alvin J. Siteman Cancer Center at Barnes-Jewish Hospital and Washington University School of Medicine

MeSH Terms

Conditions

Myelodysplastic Syndromes

Condition Hierarchy (Ancestors)

Bone Marrow Diseases; Hematologic Diseases; Hemic and Lymphatic Diseases

Study Officials

• Meagan A Jacoby, M.D., Ph.D.

  Washington University School of Medicine

  PRINCIPAL INVESTIGATOR

Central Study Contacts

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

CONTACT

314-362-9405; mjacoby@wustl.edu

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 21, 2022
• First Posted: June 28, 2022
• Study Start: July 27, 2022
• Primary Completion (Estimated): July 31, 2027
• Study Completion (Estimated): August 31, 2027
• Last Updated: December 11, 2025

Record last verified: 2025-12

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP, ANALYTIC CODE
• Time Frame: Beginning 3 months and ending 5 years following article publication.
• Access Criteria: Researchers who provide a methodologically sound proposal may submit proposals to mjacoby@wustl.edu. To gain access, data requestors will need to sign a data access agreement.

Locations

US (1)