Recruiting NCT07081087

Replacing Bone Marrow Diagnostics With Peripheral Blood Analysis in Cytopenia Patients

— Observational Cytopenia MDS

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied: The protocol lists: PERIBLOOD-MDS.
Who it may be relevant to: Registry conditions: Cytopenia, MDS. Basic parameters: from 18 years · All.
What needs checking: Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place: United States
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Official title

Development of a Peripheral Blood Assay to Replace BM Evaluation in Cytopenia - a Multi-Center Observational Study

Overview

Detailed description

This observational, multi-center study aims to collect data in order to develop a novel, minimally invasive diagnostic tool for MDS based on peripheral blood profiling of circulating hematopoietic stem and progenitor cells (cHSPCs) using single-cell RNA sequencing and DNA sequencing. Current MDS diagnosis relies on bone marrow (BM) aspiration and biopsy, which is invasive, technically challenging, and sometimes inconclusive, particularly in early or low-risk disease. Our prior research established a healthy reference map of cHSPC subtypes and developed a computational pipeline that distinguishes MDS from non-clonal cytopenias based on deviations from this reference. In this study, patients referred, as part of standard care, for BM evaluation due to unexplained cytopenias or abnormal blood counts and 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 one. Secondary objectives include evaluating its potential for MDS risk stratification and assessing its ability to reduce the need for BM evaluations.

Interventions

Diagnostic test PERIBLOOD-MDS
In the study, peripheral blood will be taken from all patients, shipped and analyzed at the Weizmann Institute of Science to produce a report based on our technology. The report will contain data on the diagnosis, blast counts and karyotype. This information will be compared with the results from the bone marrow scan, taken separately to each patient, to validate the accuracy of our technology

Primary outcome measures

To develop PERIBLOOD-MDS diagnostic test of PB cHPCs for the diagnosis of MDS [Time frame: Three months following the peripheral blood sample]

Eligibility criteria

Inclusion criteria

Patients aged 18 and up with suspected/confirmed MDS cases referred to BM evaluation either for diagnosis or risk assessment due to cytopenia
Platelets < 150 × 10E9/L or
Absolute neutrophil count < 1.8 × 10E9/L or
Hemoglobin (Hgb) < 13 g/dL (males) and < 12 g/dL (female) and
For both sexes, no evidence of Iron, folinic acid, or B12 deficiency

Exclusion criteria

Women who are pregnant
Previous diagnosis of leukemia; AML, MPN, ALL, CLL, MGUS/MM or any other gammopathy
Lymphocytes > 5000/ul
Patients who are on disease-related therapy are excluded, unless they are treated with Erythropoietin or Prednisone. See Appendix 2 for the list of excluded treatments.
Patients who have undergone a bone marrow transplant.

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model: Cohort

Study locations

United States · 2 centers

University of California San Diego — San Diego
University of Miami — Miami

Identifiers

NCT: NCT07081087 · PERIBLODD-MDS

Primary sources (government registries)

ClinicalTrials.gov (US NIH)

View this study on ClinicalTrials.gov ↗