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

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ClinicalTrials.gov Identifier: NCT05434598
Recruitment Status : Recruiting
First Posted : June 28, 2022
Last Update Posted : August 2, 2022
Sponsor:
Information provided by (Responsible Party):
Washington University School of Medicine

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).

Condition or disease Intervention/treatment Phase
Whole Genome Sequencing Myelodysplastic Syndromes Device: ChromoSeq Not Applicable

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 60 participants
Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)
Primary Purpose: Diagnostic
Official Title: A Prospective Study of Whole Genome Sequencing (ChromoSeq) as an Adjunct to Conventional Genomic Profiling in MDS
Actual Study Start Date : July 27, 2022
Estimated Primary Completion Date : October 31, 2023
Estimated Study Completion Date : November 30, 2023

Resource links provided by the National Library of Medicine


Arm Intervention/treatment
Experimental: Patients: ChromSeq
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.
Device: ChromoSeq
Novel, streamlined whole genome sequencing approach

No Intervention: Stakeholders (Treating Physicians)
Stakeholders (treating physicians) will complete surveys/questionnaires



Primary Outcome Measures :
  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 15 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 15 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 15 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 Outcome Measures :
  1. Stakeholder perceptions of ChromoSeq [ Time Frame: Through 1 month after generation of ChromoSeq for all patients enrolled (estimated to be 16 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.



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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Criteria

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


Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT05434598


Contacts
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Contact: Meagan A Jacoby, M.D., Ph.D. 314-362-9405 mjacoby@wustl.edu

Locations
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United States, Missouri
Washington University School of Medicine Recruiting
Saint Louis, Missouri, United States, 63110
Contact: Meagan A Jacoby, M.D., Ph.D.    314-362-9405    mjacoby@wustl.edu   
Principal Investigator: Meagan A Jacoby, M.D., Ph.D.         
Sub-Investigator: Matthew J Walter, M.D.         
Sub-Investigator: David H Spencer, M.D., Ph.D.         
Sub-Investigator: Mary C Politi, Ph.D.         
Sub-Investigator: Matthew Schuelke         
Sponsors and Collaborators
Washington University School of Medicine
Investigators
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Principal Investigator: Meagan A Jacoby, M.D., Ph.D. Washington University School of Medicine
Additional Information:
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Responsible Party: Washington University School of Medicine
ClinicalTrials.gov Identifier: NCT05434598    
Other Study ID Numbers: 202206077
First Posted: June 28, 2022    Key Record Dates
Last Update Posted: August 2, 2022
Last Verified: August 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: Individual participant data that underlie the results reported in the article, after deidentification (text, tables, figures, and appendices).
Supporting Materials: Study Protocol
Statistical Analysis Plan (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.

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: Yes
Device Product Not Approved or Cleared by U.S. FDA: Yes
Product Manufactured in and Exported from the U.S.: No
Additional relevant MeSH terms:
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Myelodysplastic Syndromes
Bone Marrow Diseases
Hematologic Diseases