Whole Genome Sequencing (ChromoSeq) as an Adjunct to Conventional Genomic Profiling in AML and MDS
Trial statusRecruiting
Trial phaseNot applicable
Trial typeInterventional
Biological sexAll
Age18+
SponsorWashington University School of Medicine
About this trial
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 diagnoses of acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS).
Eligibility criteria
This trial accepts healthy volunteersQualifiers
Patient with a clinical suspicion for a new diagnosis of AML or MDS for whom the diagnostic molecular testing via the hematologic molecular algorithm (HMA) at BJH is requested or planned to be requested.
Adult patients 18 years or older.
Ability to understand and willingness 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.
Disqualifiers
Younger than 18 years of age
Does not treat patients at Washington University School of Medicine
Trial design
Design model
Parallel
Treatments tested in this trial
ChromoSeq
DeviceNovel, streamlined whole genome sequencing approach
Treatment groups
325 Participants
are divided into 2 treatment groupsGroup A: Patients: ChromoSeqExperimental treatment 1 intervention
Group B: Stakeholders (Treating Physicians)No intervention 0 interventions
Trial outcomes
Primary outcomes
1
Sensitivity of ChromoSeq as measured by total number of recurrent structural variants identified
* As compared to conventional cytogenetics in a real-time clinical setting * The total number of recurrent structural variants will be measured in each sample by ChromoSeq and metaphase cytogenetics yielding a pair of measurements. Each measurement will also be dichotomized into the presence or absence of at least one recurrent structural variant. The hypothesis of no difference in the number of variants detected by each method will be analyzed by a paired-sample t-test. However, if it is determined that the assumptions of a t-test are not tenable then a paired-sample sign test will be used instead. McNemar's test will be used to compare whether or not at least one recurrent structural variant identified is by each method.
Time frame
Through completion of all ChromoSeq tests (estimated to be 15 months)2
Sensitivity of ChromoSeq as measured by total number of copy number alterations identified
* As compared to conventional cytogenetics in a real-time clinical setting * The total number of copy number alterations will be measured in each sample by ChromoSeq and metaphase cytogenetics yielding a pair of measurements. Each measurement will also be dichotomized into the presence or absence of at least one copy number alteration. The hypothesis of no difference in the number of copy number alterations detected by each method will be analyzed by a paired-sample t-test. However, if it is determined that the assumptions of a t-test are not tenable then a paired-sample sign test will be used instead. McNemar's test will be used to compare whether or not at least one copy number alterations is identified is by each method.
Time frame
Through completion of all ChromoSeq tests (estimated to be 15 months)3
Sensitivity of ChromoSeq as measured by number of single nucleotide variants identified
* As compared to high coverage gene panels in a real-time clinical setting * The number of single nucleotide variants will be counted for each sample. Additionally, the data will be dichotomized into the presence or absence of at least one single nucleotide variant. Data will be analyzed by paired-sample t-tests and McNemar's test.
Time frame
Through completion of all ChromoSeq tests (estimated to be 15 months)4
Sensitivity of ChromoSeq as measured by number of insertion-deletions identified
* As compared to high coverage gene panels in a real-time clinical setting * The number of insertion-deletions will be counted for each sample. Additionally, the data will be dichotomized into the presence or absence of at least one insertion-deletion. Data will be analyzed by paired-sample t-tests and McNemar's test.
Time frame
Through completion of all ChromoSeq tests (estimated to be 15 months)Secondary outcomes
1
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.
Time frame
Within 1 month after generation of ChromoSeq (estimated to be 2 months)2
Stakeholder perceptions of ChromoSeq as measured by the Acceptability of Intervention Measure
* Will complete survey at the time when 100 genomes have been sequenced * 4 statements with answers ranging from 1=completely disagree to 5=completely agree.
Time frame
When 100 genomes have been sequenced (estimated to be 12 months)3
Stakeholder perceptions of ChromoSeq as measured by the Intervention Appropriateness Measure
* Will complete survey at the time when 100 genomes have been sequenced. * 4 statements with answers ranging from 1=completely disagree to 5=completely agree.
Time frame
When 100 genomes have been sequenced (estimated to be 12 months)4
Stakeholder perceptions of ChromoSeq as measured by the Feasibility of Implementation Measure
-Will complete survey at the time when 100 genomes have been sequenced. --4 statements with answers ranging from 1=completely disagree to 5=completely agree.
Time frame
When 100 genomes have been sequenced (estimated to be 12 months)Sponsors and contacts
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Source ClinicalTrials.gov