Replacing Bone Marrow Diagnostics With Peripheral Blood Analysis in MPN Patients

Development of a Peripheral Blood Assay to Replace Bone Marrow Biopsy in Myeloproliferative Neoplasms- a Multi-center Observational Study

The PERIBLOOD-MPN study aims to develop and validate a minimally invasive peripheral blood test using single-cell RNA sequencing to accurately diagnose and classify myeloproliferative neoplasms, potentially reducing the need for invasive bone marrow biopsies.

Study Overview

• Status: Not yet recruiting
• Conditions: Myeloproliferative Neoplasm
• Intervention / Treatment: Diagnostic test: PERIBLOOD-MPN

Detailed Description

PERIBLOOD-MPN is an observational, multi-center study that 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, a procedure that is invasive, technically demanding, and may be inconclusive in early or prefibrotic disease stages.

Prior work in the field has 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 a bone marrow biopsy due to suspected myeloproliferative neoplasm (MPN) will undergo PB collection for genomic profiling. The primary objective is to develop a PB-based test by comparing the new test's diagnoses to conventional BM-based diagnostics. The secondary objectives include evaluating its potential for MPN subtype classification and risk stratification, as well as assessing its ability to reduce the need for BM biopsies.

• Study Type: Observational
• Enrollment (Estimated): 500

Contacts and Locations

• Study Contact: Name: Liran Shlush, Prof.; Phone Number: +97289342247; Email: liran.shlush@weizmann.ac.il
• Study Contact Backup: Name: Gil Gonen Yaacovi, PhD; Phone Number: +9728747027401; Email: gil.gonen-yaacovi@weizmann.ac.il

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: N/A

• Sampling Method: Probability Sample

Study Population

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

Description

Inclusion Criteria:

1. Age ≥ 18 years

2. 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
3. Patients who are referred for a bone marrow biopsy due to a suspected diagnosis of MPN

Exclusion Criteria:

1. Patients diagnosed with MPN receiving therapy
2. Patients who have undergone a bone marrow transplant

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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

Collaborators and Investigators

• Sponsor: Weizmann Institute of Science

Study record dates

Study Major Dates

• Study Start (Estimated): October 1, 2026
• Primary Completion (Estimated): June 1, 2029
• Study Completion (Estimated): June 1, 2032

Study Registration Dates

• First Submitted: June 9, 2026
• First Submitted That Met QC Criteria: June 9, 2026
• First Posted (Actual): June 15, 2026

Study Record Updates

• Last Update Posted (Actual): September 1, 2026
• Last Update Submitted That Met QC Criteria: August 27, 2026
• Last Verified: June 1, 2026

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Hematologic Diseases; Bone Marrow Diseases; Hemic and Lymphatic Diseases; Myeloproliferative Disorders
• Other Study ID Numbers: PERIBLOOD-MPN

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO
• IPD Plan Description: We will send PERIBLOOD report including the genetic data, for each patients, to the participating sites

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: Yes
• product manufactured in and exported from the U.S.: Yes