Replacing Bone Marrow Diagnostics With Peripheral Blood Analysis in MPN Patients

NCT07648433 | Not Yet Recruiting FDA Device

• 1 other identifier: PERIBLOOD-MPN
• Study Type: observational
• Target: 500
• Locations: 0 countries
• Sites: N/A

Brief Summary

This observational, multi-center study aims to collect data to develop a novel, minimally invasive diagnostic tool for myeloproliferative neoplasms (MPN) based on peripheral blood (PB) profiling of circulating hematopoietic stem and progenitor cells (cHSPCs) using single-cell RNA sequencing (scRNA-seq). Current diagnostic practice relies on bone marrow (BM) biopsy, procedures that is invasive, technically demanding, and may be inconclusive in early or prefibrotic disease stages. Our prior work established a reference atlas of healthy cHSPC subtypes and a computational pipeline capable of identifying disease-specific transcriptional changes by quantifying deviations from this reference. This study will assess whether PB-based genomic profiling can accurately distinguish MPN from non-clonal cytoses, including secondary erythrocytosis or thrombocytosis. Patients referred for bone marrow biopsy due to suspected myeloproliferative neoplasm (MPN) will 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 diagnostics. Secondary objectives include evaluating its potential for MPN subtype classification, risk stratification, as well as assessing its ability to reduce the need for BM biopsies.

Conditions

Myeloproliferative Neoplasm

Outcome Measures

Primary Outcomes (1)

• To development PERIBLOOD-MPN Diagnostic Test

  Development of PERIBLOOD-MPN Diagnostic Test Using PB-Derived CD34+ cHSPCs for Diagnosis of MPN

  Three months following the PB sample

Interventions

PERIBLOOD-MPN DIAGNOSTIC_TEST

Observational intervation of cHSPCs

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Patients with MPN, or suspicion for MPN, who are referred to BM will be recruited to the study

You may qualify if:

• Age ≥ 18 years
• Confirmed MPN diagnosis, based on the WHO criteria (Barbui 2018), which includes:
• Polycythemia Vera (PV) Criteria:
• Elevated hemoglobin (\>16.5 g/dL for men, \>16.0 g/dL for women), hematocrit (\>49% for men, \>48% for women), or increased red cell mass
• Bone marrow biopsy showing hypercellularity with trilineage growth (panmyelosis)
• Presence of JAK2 mutation (V617F or exon 12)
• Essential Thrombocythemia (ET) Criteria:
• Platelet count ≥450 ×10⁹/L
• Bone marrow biopsy showing proliferation mainly of the megakaryocyte lineage
• Not meeting WHO criteria (Alaggio et al., 2022) for other myeloid neoplasms (such as CML, PV, PMF, MDS).
• Presence of JAK2, CALR, or MPL mutation Primary Myelofibrosis (PMF) Criteria
• Megakaryocytic proliferation and atypia, with or without reticulin fibrosis, and increased marrow cellularity (for prefibrotic/early PMF) or significant reticulin/collagen fibrosis (for overt PMF)
• Not meeting criteria for other myeloid neoplasms
• Presence of JAK2, CALR, or MPL mutation, or in their absence, another clonal marker
• Patients who are referred for a bone marrow biopsy due to a suspected diagnosis of MPN

You may not qualify if:

• Patients diagnosed with MPN receiving therapy
• Patients who have undergone a bone marrow transplant

Sponsors & Collaborators

• Weizmann Institute of Science: lead

Biospecimen

Retention: SAMPLES WITH DNA

Peripheral blood samples

MeSH Terms

Conditions

Myeloproliferative Disorders

Condition Hierarchy (Ancestors)

Bone Marrow Diseases; Hematologic Diseases; Hemic and Lymphatic Diseases

Central Study Contacts

Liran Shlush, Prof.

CONTACT

+97289342247; liran.shlush@weizmann.ac.il

Gil Gonen Yaacovi, PhD

CONTACT

+9728747027401; gil.gonen-yaacovi@weizmann.ac.il

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 9, 2026
• First Posted: June 15, 2026
• Study Start: June 1, 2026
• Primary Completion (Estimated): June 1, 2029
• Study Completion (Estimated): June 1, 2032
• Last Updated: June 15, 2026

Record last verified: 2026-06

Data Sharing

• IPD Sharing: Will not share