Clinical trial NCT05434598: Whole Genome Sequencing (ChromoSeq) as an Adjunct to Conventional Genomic Profiling in MDS
Official title: A Prospective Study of Whole Genome Sequencing (ChromoSeq) as an Adjunct to Conventional Genomic Profiling in MDS
Study type: INTERVENTIONAL
Overall status: RECRUITING
Phase: NA
Conditions: Whole Genome Sequencing
Myelodysplastic Syndromes
Lead sponsor: Washington University School of Medicine
Sponsor class: OTHER
Collaborators: name: American Society of Hematology
name: Edward P. Evans Foundation
First posted: 2022-06-28
Enrollment: 60
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Allocation: NON_RANDOMIZED
Intervention model: PARALLEL
Primary purpose: DIAGNOSTIC

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).


Eligibility 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

Primary outcomes:
measure: Rate of assay success on first attempt between ChromoSeq and conventional cytogenetics as measured by total number of recurrent structural variants identified
timeFrame: Through completion of all ChromoSeq tests (estimated to be 24 months)
measure: Rate of assay success on first attempt between ChromoSeq and conventional cytogenetics as measured by total number of copy number alterations identified
timeFrame: Through completion of all ChromoSeq tests (estimated to be 24 months)
measure: Proportion of failed ChromoSeq assays
timeFrame: Through completion of all ChromoSeq tests (estimated to be 24 months)
Secondary outcomes:
measure: Stakeholder perceptions of ChromoSeq
timeFrame: Through 1 month after generation of ChromoSeq for all patients enrolled (estimated to be 25 months)
Other outcomes:
Locations:
city: Saint Louis
country: United States
facility: Washington University School of Medicine
state: Missouri
Study officials:
affiliation: Washington University School of Medicine
name: Meagan A Jacoby, M.D., Ph.D.
role: PRINCIPAL_INVESTIGATOR
References: