Using whole genome sequencing to improve diagnosis in myelodysplastic syndromes
Official title: A Prospective Study of Whole Genome Sequencing (ChromoSeq) as an Adjunct to Conventional Genomic Profiling in MDS
Run by Washington University School of Medicine · NCT05434598 · Data updated 2026-11-12
This study is testing if a new genetic testing method can help doctors diagnose myelodysplastic syndromes better than the usual methods.
Quick facts
| Study type | Interventional |
|---|---|
| Ages | 18 Years and up |
| Sex | All |
| Enrollment | 100 (estimated) |
| Sponsor | Washington University School of Medicine Academic / other |
| Locations | 1 site (St Louis, Missouri) |
| Status | Recruiting |
| Started | July 27, 2022 |
| Main results expected | July 31, 2027 |
| Study ends | August 31, 2027 |
| Registry record updated | October 13, 2026 |
| Trial ID | NCT05434598 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates are adults diagnosed with MDS or suspected of having MDS who have not received prior disease-modifying therapies.
✕Probably not a fit
Patients who have previously undergone treatment for MDS or are younger than 18 years may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This study evaluates the feasibility of using a whole genome sequencing assay called ChromoSeq alongside standard genomic profiling for patients diagnosed with myelodysplastic syndromes (MDS). It involves collecting patient data and physician feedback to assess how well ChromoSeq can be integrated into routine diagnostic testing. The study is conducted at Washington University School of Medicine and aims to enhance the understanding of MDS through advanced genomic techniques.
Why it matters
Potential benefit: If successful, this approach could lead to more accurate diagnoses and better treatment strategies for patients with myelodysplastic syndromes.
How similar studies have gone: While the use of whole genome sequencing is gaining traction, this specific application in MDS is relatively novel and has not been extensively tested in prior studies.
Who can join: the full rules
Show full inclusion / exclusion 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
Where it's running
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Washington University School of Medicine
St Louis, Missouri, United States Recruiting
Study contacts
- Principal investigator: Meagan A Jacoby, M.D., Ph.D. — Washington University School of Medicine
- Study coordinator: Meagan A Jacoby, M.D., Ph.D.
- Email: mjacoby@wustl.edu
- Phone: 314-362-9405
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.