NCT07081087

Replacing Bone Marrow Diagnostics With Peripheral Blood Analysis in Cytopenia Patients

Development of a Peripheral Blood Assay to Replace BM Evaluation in Cytopenia - a Multi-Center Observational Study

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 1,500 (estimated)
• Sponsor: Weizmann Institute of Science · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

Summary

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.

Detailed description

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.

Conditions

• Cytopenia
• MDS

Interventions

Type	Name	Description
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

Timeline

• Start date: 2025-06-01
• Primary completion: 2028-12-01
• Completion: 2028-12-01
• First posted: 2025-07-23
• Last updated: 2026-03-25

Locations

2 sites across 1 country: United States

Regulatory

• FDA-regulated device study