A blood test to replace bone marrow exams for diagnosing cytopenias and MDS

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

This study will test whether a blood test that analyzes circulating stem and progenitor cells can diagnose MDS and other unexplained low blood counts in adults referred for a bone marrow evaluation.

Quick facts

• Study type: Observational
• Enrollment: 1500 (estimated)
• Ages: 18 Years and up
• Sex: All
• Sponsor: Weizmann Institute of Science (Academic / other)
• Drugs / interventions: Prednisone
• Locations: 2 sites (San Diego, California and 1 other locations)
• Trial ID: NCT07081087 on ClinicalTrials.gov

What this trial studies

This is a multi-center observational effort that collects peripheral blood from adults referred for bone marrow evaluation because of unexplained cytopenias. Researchers will perform single-cell RNA sequencing and DNA sequencing of circulating hematopoietic stem and progenitor cells (cHSPCs) and compare the resulting blood-based calls to conventional bone marrow diagnoses. The team will use a previously developed reference map and computational pipeline to classify samples and will examine whether the blood profiles can also stratify MDS risk. Secondary analyses will estimate how often a validated blood test could reduce the need for invasive bone marrow procedures.

Who should consider this trial

Good fit: Adults (18+) with unexplained cytopenias who are referred for bone marrow evaluation—typically those with platelets <150×10^9/L, ANC <1.8×10^9/L, or low hemoglobin (males <13 g/dL, females <12 g/dL) and without iron, folate, or B12 deficiency—are ideal candidates.

Not a fit: Patients who are pregnant, have a prior diagnosis of leukemia or other specified hematologic malignancies, have very high lymphocyte counts, have had a prior bone marrow transplant, or are receiving excluded disease-directed therapies are unlikely to benefit from this approach.

Why it matters

Potential benefit: If successful, the test could let many patients avoid invasive bone marrow biopsies by diagnosing MDS from a routine blood draw.

How similar studies have performed: Early work from the investigators produced a healthy cHSPC reference map and showed promising ability to distinguish MDS from non-clonal cytopenias, but broad multi-center validation is still needed.

Eligibility criteria

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 excluded, unless they are treated with Erythropoietin or Prednisone. See Appendix 2 for the list of excluded treatments.
5. Patients who have undergone a bone marrow transplant.

Where this trial is running

San Diego, California and 1 other locations

• University of California San Diego — San Diego, California, United States (Recruiting)
• University of Miami — Miami, Florida, United States (Recruiting)

Study contacts

• Principal investigator: Liran Shlush — The Weizmann Institute of Science
• Study coordinator: Clinical Trial Manage

Conditions Cytopenia; MDS