NCT07500441

Digital PCR of CHIP and MR for MRD Monitoring After Allo-HSCT in AML

Digital PCR-Based Detection of CHIP and MR Mutations for Minimal Residual Disease Monitoring After Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Acute Myeloid Leukemia

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 100 (estimated)
• Sponsor: Peking University People's Hospital · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

Summary

This prospective observational study aims to evaluate the clinical significance of measurable residual disease (MRD) monitoring using digital PCR (dPCR) in patients with acute myeloid leukemia (AML) following allogeneic hematopoietic stem cell transplantation (allo-HSCT). The study will specifically enroll patients harboring clonal hematopoiesis (CH) and/or myelodysplasia-related (MR) gene mutations. Patient-specific dPCR assays will be established to enable highly sensitive, longitudinal quantification of mutation burden. Serial assessments will be performed at predefined time points within the first 12 months after transplantation. The study will investigate the prognostic value of dPCR-based MRD dynamics for predicting relapse, relapse-free survival, and overall survival, and will further explore its potential to enable earlier detection of molecular relapse compared with conventional methods.

Detailed description

Allogeneic hematopoietic stem cell transplantation (allo-HSCT) remains a potentially curative treatment for patients with intermediate- and high-risk acute myeloid leukemia (AML). Post-transplant monitoring of measurable residual disease (MRD) is critical for early detection of relapse and timely clinical intervention. This study focuses on AML patients harboring clonal hematopoiesis (CH) and/or myelodysplasia-related (MR) gene mutations (e.g., DNMT3A, TET2, ASXL1, SRSF2), who lack recurrent fusion genes and NPM1 mutations, representing a population with an unmet need for sensitive molecular MRD monitoring strategies. For each enrolled patient, an individualized digital PCR (dPCR) assay will be developed to detect patient-specific mutations with high sensitivity. Bone marrow samples will be collected longitudinally at predefined time points (baseline \[month 0\], and months 1, 2, 3, 4.5, 6, 9, and 12 post-allo-HSCT). Longitudinal dynamics of mutation burden will be analyzed to evaluate their association with clinical outcomes, including cumulative incidence of relapse (CIR) and overall survival (OS). This study aims to establish dPCR-based MRD monitoring as a precise and clinically actionable tool to guide early intervention and ultimately improve post-transplant outcomes in AML.

Conditions

• Acute Myeloid Leukemia (AML)

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	Individualized Digital PCR (dPCR) monitoring	Bone marrow samples are collected at 0, 1, 2, 3, 4.5, 6, 9, and 12 months post-HSCT. DNA is extracted and specific CH/MR mutation burden is quantified using individualized dPCR primer/probe systems.

Timeline

• Start date: 2026-03-20
• Primary completion: 2027-12-31
• Completion: 2029-12-31
• First posted: 2026-03-30
• Last updated: 2026-03-30

Locations

1 site across 1 country: China