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

Myelodysplastic Syndromes Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05434598
• Other study ID #: 202206077
• Status: Recruiting
• Phase: N/A
• Start date: July 27, 2022
• Est. completion date: August 31, 2024

Study information

• Verified date: September 2023
• Source: Washington University School of Medicine
• Contact: Meagan A Jacoby, M.D., Ph.D.
• Phone: 314-362-9405
• Email: mjacoby[@]wustl.edu
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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).

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 60
• Est. completion date: August 31, 2024
• Est. primary completion date: July 31, 2024
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Myelodysplastic Syndromes
• Whole Genome Sequencing

Intervention

Device:
• ChromoSeq
Novel, streamlined whole genome sequencing approach

Locations

Country	Name	City	State
United States	Washington University School of Medicine	Saint Louis	Missouri

Sponsors (2)

Lead Sponsor	Collaborator
Washington University School of Medicine	American Society of Hematology

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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)
Primary	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)
Primary	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	Stakeholder perceptions of ChromoSeq	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.	Through 1 month after generation of ChromoSeq for all patients enrolled (estimated to be 25 months)

External Links

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