Whole Genome SequencingNCT05434598
Whole Genome Sequencing (ChromoSeq) as an Adjunct to Conventional Genomic Profiling in MDS
A study testing ChromoSeq in people with Whole Genome Sequencing and Myelodysplastic Syndromes, run by Washington University School of Medicine at 1 site in United States.
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… Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Whole Genome Sequencing, Myelodysplastic Syndromes
- What is being tested?
- ChromoSeq
- Type of treatment
- Medical device
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 100 participants
- Where
- 1 siteUnited States
- Study dates
- 27 Jul 2022to 31 Aug 2027
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- 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.)
Who cannot join
- -Younger than 18 years of age
- -Does not treat patients at Washington University School of Medicine
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
Washington University School of Medicine
St Louis, Missouri, 63110
Meagan A Jacoby, M.D., Ph.D., 314-362-9405, mjacoby@wustl.edu
Meagan A Jacoby, M.D., Ph.D.
About this study
Official title: A Prospective Study of Whole Genome Sequencing (ChromoSeq) as an Adjunct to Conventional Genomic Profiling in MDS
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
- Being tested
- ChromoSeq
- Medical subject headings
- Myelodysplastic Syndromes
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
ChromoSeqDevice
Novel, streamlined whole genome sequencing approach
| Study group | Role | What they receive |
|---|---|---|
| Arm 1 MDS Patients: ChromoSeq | 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. Receives: Device: ChromoSeq |
| Arm 2 MDS Patients: ChromoSeq | 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. Receives: Device: ChromoSeq |
| Stakeholders (Treating Physicians) | No intervention | Stakeholders (treating physicians) will complete surveys/questionnaires |
What is being measured
The primary outcome is the main question the study is designed to answer.
Rate of assay success on first attempt compared 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%.
Measured: Through completion of all ChromoSeq tests (estimated to be 24 months, patient involvement 1 day)
Rate of assay success on first attempt compared 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%.
Measured: Through completion of all ChromoSeq tests (estimated to be 24 months, patient involvement 1 day)
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.
Measured: Through completion of all ChromoSeq tests (estimated to be 24 months, patient involvement 1 day)
IPSS-M risk score compared between ChromoSeq and conventional standard of care genomic profiling (Arm 2 only)
Measured: Through completion of all ChromoSeq tests (estimated to be 24 months, patient involvement 1 day)
Secondary outcomes (2)
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.
Measured: Through 1 month after generation of ChromoSeq for all patients enrolled (estimated to be 25 months)
Number and type of recurrent genomic alterations identified compared between 200-250 X ChromoSeq and standard 60-90X ChromoSeq (Arm 2 only)
Measured: Through completion of all ChromoSeq tests (estimated to be 24 months, patient involvement 1 day)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Jun 2022
- Study start27 Jul 2022
- Primary completion31 Jul 2027 (estimated)
- Study completion31 Aug 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Whole Genome SequencingStudies of the same condition, open and under way.
- More trials run by Washington University School of MedicineThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Washington University School of Medicine
- Sponsor type
- University, hospital or other
- Collaborators
- American Society of Hematology, Edward P. Evans Foundation, National Cancer Institute (NCI)
- Responsible party
- Sponsor
- Investigators
- Meagan A Jacoby, M.D., Ph.D., Principal investigator, Washington University School of Medicine
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05434598
- Sponsor's protocol ID
- 202206077
- Other IDs
- UH3CA272904
- Status last verified
- Oct 2026
- First submitted
- 21 Jun 2022
- Last updated
- 13 Oct 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- Yes
- Individual data sharing
- Yes: Individual participant data that underlie the results reported in the article, after deidentification (text, tables, figures, and appendices).
Study at a glance
From the registry record, last updated by the sponsor on 13 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Prospective Study of Whole Genome Sequencing (ChromoSeq) as an Adjunct to Conventional Genomic Profiling in MDS
- ClinicalTrials.gov ID
- NCT05434598
- Acronym / sponsor ID
- 202206077
- Conditions
- Whole Genome Sequencing, Myelodysplastic Syndromes
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- Washington University School of MedicineUniversity, hospital or other
- Collaborators
- American Society of Hematology, Edward P. Evans Foundation, National Cancer Institute (NCI)
- Study start
- 27 Jul 2022 (actual)
- Primary completion
- 31 Jul 2027 (estimated)
- Study completion
- 31 Aug 2027 (estimated)
- First posted
- 28 Jun 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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).
Study design
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Arm 1 MDS Patients: ChromoSeq | Experimental | Device: ChromoSeqChromoSeq 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. |
| Arm 2 MDS Patients: ChromoSeq | Experimental | Device: ChromoSeqChromoSeq 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. |
| Stakeholders (Treating Physicians) | No intervention | –Stakeholders (treating physicians) will complete surveys/questionnaires |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (8 listed)
- 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.
Key exclusion criteria (2 listed)
- -Younger than 18 years of age
- -Does not treat patients at Washington University School of Medicine
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| ChromoSeqNovel, streamlined whole genome sequencing approach | Device | Arm 1 MDS Patients: ChromoSeq, Arm 2 MDS Patients: ChromoSeq |
Primary outcome
Rate of assay success on first attempt compared 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 24 months, patient involvement 1 day)
-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%.
Rate of assay success on first attempt compared 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 24 months, patient involvement 1 day)
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%.
Proportion of failed ChromoSeq assays
Time frame: Through completion of all ChromoSeq tests (estimated to be 24 months, patient involvement 1 day)
* 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.
IPSS-M risk score compared between ChromoSeq and conventional standard of care genomic profiling (Arm 2 only)
Time frame: Through completion of all ChromoSeq tests (estimated to be 24 months, patient involvement 1 day)
2 secondary outcomes
Stakeholder perceptions of ChromoSeq
Time frame: Through 1 month after generation of ChromoSeq for all patients enrolled (estimated to be 25 months)
Number and type of recurrent genomic alterations identified compared between 200-250 X ChromoSeq and standard 60-90X ChromoSeq (Arm 2 only)
Time frame: Through completion of all ChromoSeq tests (estimated to be 24 months, patient involvement 1 day)
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Oct 2026.
- Alvin J. Siteman Cancer Center at Barnes-Jewish Hospital and Washington University School of MedicineLink provided by the sponsor.
- Individual participant dataSharing planned: Yes. Individual participant data that underlie the results reported in the article, after deidentification (text, tables, figures, and appendices).
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Meagan A Jacoby, M.D., Ph.D. principal investigator
Washington University School of Medicine
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing ChromoSeq in people with Whole Genome Sequencing and Myelodysplastic Syndromes, run by Washington University School of Medicine at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 8 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 13 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Meagan A Jacoby, M.D., Ph.D. (314-362-9405, mjacoby@wustl.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Rate of assay success on first attempt compared 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 24 months, patient involvement 1 day)). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 13 Oct 2026.