Replacing Bone Marrow Diagnostics With Peripheral Blood Analysis in MDS/Cytopenia Patients

Not Applicable

Recruiting

• Conditions: Cytopenia

• Registration Number: NCT07081087
• Lead Sponsor: Weizmann Institute of Science

Brief Summary

This study aims to validate a novel, non-invasive diagnostic approach for blood and bone marrow malignancies using single-cell RNA sequencing of circulating hematopoietic stem and progenitor cells (cHSPCs) from peripheral blood. Building on prior work defining normal cHSPC profiles in healthy individuals, the study introduces a pipeline for identifying blood pathologies, with a focus on improving the diagnosis and subclassification of myelodysplastic syndromes (MDS). A multi-center clinical trial is proposed to evaluate the method's ability to predict bone marrow results in patients with cytopenia, potentially reducing reliance on bone marrow biopsies.

Detailed Description

Not available

Study Timeline

• Status Verified: 2025-04
• Study Start: 2025-06-01
• Study First Submitted: 2025-07-15
• Study First Submitted QC: 2025-07-15
• Study First Posted: 2025-07-23
• Last Update Submitted: 2025-08-26
• Last Update Posted: 2025-09-03
• Primary Completion: 2028-12
• Study Completion: 2028-12-01

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 1500

Inclusion Criteria

• Platelets < 150 × 109/L or
• Absolute neutrophil count < 1.8 × 109/L or
• Hemoglobin (Hgb) < 13 g/dL (males) and < 12 g/dL (female) and
• For all genders, no evidence of Iron, folinic acid, or B12 deficiency
• All subjects should be referred for BM analysis

Exclusion Criteria

• Previous diagnosis of leukemia (AML, MPN, ALL, CLL, MGUS/MM or any other gammopathy)
• Lymphocytes>5000/ul
• If patients are recruited after
• Diagnosis of any disease related therapy 3 month prior to enrollment

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Primary Outcome Measures

Name	Time	Method
Diagnostic accuracy of scRNAseq of peripheral blood CD34 cells in the diagnosis of cytopenia	Three months following the peripheral blood sample	The accuracy of scRNA-seq analysis of peripheral blood CD34-positive cells, together with machine learning algorithms, will be compared with that of bone marrow sampling in cytopenia patients, in order to further validate the reference model that was recently published (https://www.nature.com/articles/s41591-025-03716-5). Among the parameters that will be compared are the diagnosis, blast count, and mutational data

Trial Locations

Locations (1)

University of Miami; 🇺🇸 Miami, Florida, United States