Development of a Peripheral Blood Assay to Replace BM Evaluation in Cytopenia - a Multi-Center Observational Study
Weizmann Institute of Science
Summary
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.
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 distinguish…
Eligibility
- Age range
- 18+ years
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: 1. Patients aged 18 and up with suspected/confirmed MDS cases referred to BM evaluation either for diagnosis or risk assessment due to cytopenia 2. Platelets \< 150 × 10E9/L or 3. Absolute neutrophil count \< 1.8 × 10E9/L or 4. Hemoglobin (Hgb) \< 13 g/dL (males) and \< 12 g/dL (female) and 5. For both sexes, no evidence of Iron, folinic acid, or B12 deficiency Exclusion Criteria: 1. Women who are pregnant 2. Previous diagnosis of leukemia; AML, MPN, ALL, CLL, MGUS/MM or any other gammopathy 3. Lymphocytes \> 5000/ul 4. Patients who are on disease-related therapy are exc…
Interventions
- Diagnostic TestPERIBLOOD-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
Locations (2)
- University of California San DiegoSan Diego, California
- University of MiamiMiami, Florida