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

What this Trial Is About

Researchers are conducting a multi-center observational study to develop a new, less invasive diagnostic tool for myelodysplastic syndromes (MDS) using peripheral blood samples. The study focuses on profiling circulating hematopoietic stem and progenitor cells (cHSPCs) with single-cell RNA and DNA sequencing. This approach aims to offer an alternative to the current bone marrow biopsy, which can be invasive and sometimes inconclusive, especially in early or low-risk cases. In this study, patients with unexplained low blood counts or suspected MDS who are referred for bone marrow evaluation will have peripheral blood collected for genomic profiling. The blood samples will be analyzed at the Weizmann Institute of Science using the PERIBLOOD-MDS diagnostic technology. The results from this blood test will be compared to the conventional bone marrow diagnosis to validate its accuracy. No interventions or treatments are given as part of this study. Participants will undergo peripheral blood sampling and standard bone marrow evaluation as part of their usual care. Researchers will collect and compare diagnostic data, blast counts, and karyotype from both tests. The primary outcome is to develop and validate the PERIBLOOD-MDS blood test within three months after sample collection. The study will also assess the test's potential to stratify MDS risk and reduce the need for bone marrow biopsies. Participation may last until the diagnostic data are fully analyzed and compared.

Replacing Bone Marrow Diagnostics With Peripheral Blood Analysis in Cytopenia Patients