Replacing Bone Marrow Diagnostics With Peripheral Blood Analysis in MDS/Cytopenia Patients

Weizmann Institute of Science

Status: Enrolling

Conditions: Cytopenia

Treatments: Diagnostic Test: PERIBLOOD

Study type: Observational

Funder types: Other

Identifiers

NCT07081087

PERIBLODD-MDS

Details and patient eligibility

About

This study aims to validate a novel, non-invasive diagnostic approach for blood and bone marrow malignancies using single-cell RNA sequencing of circulating hematopoietic stem and progenitor cells (cHSPCs) from peripheral blood. Building on prior work defining normal cHSPC profiles in healthy individuals, the study introduces a pipeline for identifying blood pathologies, with a focus on improving the diagnosis and subclassification of myelodysplastic syndromes (MDS). A multi-center clinical trial is proposed to evaluate the method's ability to predict bone marrow results in patients with cytopenia, potentially reducing reliance on bone marrow biopsies.

Enrollment: 1,500 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Platelets < 150 × 109/L or
• Absolute neutrophil count < 1.8 × 109/L or
• Hemoglobin (Hgb) < 13 g/dL (males) and < 12 g/dL (female) and
• For all genders, no evidence of Iron, folinic acid, or B12 deficiency
• All subjects should be referred for BM analysis

Exclusion criteria

• Previous diagnosis of leukemia (AML, MPN, ALL, CLL, MGUS/MM or any other gammopathy)
• Lymphocytes>5000/ul
• If patients are recruited after
• Diagnosis of any disease related therapy 3 month prior to enrollment

Trial design

1,500 participants in 1 patient group

PERIBLOOD

Treatment:

Diagnostic Test: PERIBLOOD