Replacing Bone Marrow Diagnostics With Peripheral Blood Analysis in MPN Patients

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.

Not Yet Recruiting

Trial opening soon.

Get Notified

Key information

Conditions

Myeloproliferative Neoplasm Bone Marrow Diseases Hematologic Diseases Hemic and Lymphatic Diseases Myeloproliferative Disorders

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Who can participate

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

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

Exclusion criteria

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

Treatment and study plan

PERIBLOOD-MPN

Diagnostic Test

Observational intervation of cHSPCs

Primary outcomes

To development PERIBLOOD-MPN Diagnostic Test

Time frame: Three months following the PB sample

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

Study contacts

Contact information is provided by the study sponsor or research team.

Gil Gonen Yaacovi, PhD

CONTACT

[email protected]

+9728747027401

Liran Shlush, Prof.

CONTACT

[email protected]

+97289342247

Sponsors and collaborators

Lead sponsor

Weizmann Institute of Science

Other

Registry information

Official study title

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

Important dates

Study start: 2026
Primary completion: 2029
Study completion: 2032
First posted: Jun 15, 2026
Registry last updated: Jun 15, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Not Yet Recruiting