An observational study in Cytopenia and MDS, sponsored by Weizmann Institute of Science. Recruiting at 2 sites in United States. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2026-03-25.
Sponsored by Weizmann Institute of Science · Observational
This observational, multi-center study aims to collect data in order to develop a novel, minimally invasive diagnostic tool for MDS based on peripheral blood profiling of circulating hematopoietic stem and progenitor cells (cHSPCs) using single-cell RNA sequencing and DNA sequencing.
This observational, multi-center study aims to collect data in order to develop a novel, minimally invasive diagnostic tool for MDS based on peripheral blood profiling of circulating hematopoietic stem and progenitor cells (cHSPCs) using single-cell RNA sequencing and DNA sequencing. Current MDS diagnosis relies on bone marrow (BM) aspiration and biopsy, which is invasive, technically challenging, and sometimes inconclusive, particularly in early or low-risk disease. Our prior research established a healthy reference map of cHSPC subtypes and developed a computational pipeline that distinguishes MDS from non-clonal cytopenias based on deviations from this reference. In this study, patients referred, as part of standard care, for BM evaluation due to unexplained cytopenias or abnormal blood counts and undergo PB collection for genomic profiling. The study's primary objective is to develop a PB-based test by comparing the developed test diagnoses to the conventional BM-based one. Secondary objectives include evaluating its potential for MDS risk stratification and assessing its ability to reduce the need for BM evaluations.
85 studies on the registry are indexed under Cytopenia; 23 are open to participants now.
This study's planned enrollment of 1,500 is above the median of 200 across 19 observational studies indexed under Cytopenia.
Browse Cytopenia studies →Weizmann Institute of Science is the lead sponsor of 13 studies on the registry; 7 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Patients with cytopenia, who are referred to BM from the primary care clinic will be recruited to the study
Exclusion Criteria:
No intervention is given
Diagnostic Test: PERIBLOOD-MDS
In the study, peripheral blood will be taken from all patients, shipped and analyzed at the Weizmann Institute of Science to produce a report based on our technology. The report will contain data on the diagnosis, blast counts and karyotype. This information will be compared with the results from the bone marrow scan, taken separately to each patient, to validate the accuracy of our technology
To develop PERIBLOOD-MDS diagnostic test of PB cHPCs for the diagnosis of MDS
Comparison between PERIBLOOD-MDS diagnosis and bone marrow evaluation of MDS
Time frame: Three months following the peripheral blood sample
Plan to share: No
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Weizmann Institute of Science