Replacing Bone Marrow Diagnostics With Peripheral Blood Analysis in MPN Patients
- Sponsor
- Weizmann Institute of Science
- Study ID
- NCT07648433
- Status
- Not Yet Recruiting
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Conditions
- Myeloproliferative Neoplasm
Eligibility Criteria
- Sex
- ALL
- Age
- 18 Years - N/A
- Healthy Volunteers
- Not accepted
Interventions
- PERIBLOOD-MPN — DIAGNOSTIC_TESTObservational intervation of cHSPCs
Study Details
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.
Key Dates
- First listed
- Jun 15, 2026
- Start date
- Jun 30, 2026
- Status verified
- Jun 2026
- Primary completion
- Jun 30, 2029
- Completion
- Jun 30, 2032
Study Design
- Enrollment
- 500 participants (estimated)
Primary Outcome Measure
To development PERIBLOOD-MPN Diagnostic Test [ Time Frame: Three months following the PB sample ]
Central Contacts
- Liran Shlush, Prof.+97289342247
- Gil Gonen Yaacovi, PhD+9728747027401
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