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

NCT07500441 | Recruiting

• 1 other identifier: 2026PHB191-001
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Acute Myeloid Leukemia (AML)

Keywords

Measurable Residual Disease (MRD); Digital PCR (DPCR); Allogeneic Hematopoietic Stem Cell Transplantation; Clonal Hematopoiesis

Outcome Measures

Primary Outcomes (1)

• Cumulative Incidence of Relapse (CIR)

  CIR is defined as the time from transplantation to hematologic or extramedullary relapse

  Up to 2 years post-transplantation

Secondary Outcomes (2)

• Overall Survival (OS)

  Up to 2 years post-transplantation

• Relapse-free survival (RFS)

  Up to 2 years post-transplantation

Study Arms (1)

AML post-HSCT Cohort

Patients with acute myeloid leukemia (AML) undergoing allogeneic hematopoietic stem cell transplantation (allo-HSCT) who harbor clonal hematopoiesis (CH) and/or myelodysplasia-related (MR) gene mutations, and are negative for recurrent fusion genes and NPM1 mutations.

Diagnostic Test: Individualized Digital PCR (dPCR) monitoring

Interventions

Individualized Digital PCR (dPCR) monitoring DIAGNOSTIC_TEST

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.

AML post-HSCT Cohort

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

AML patients who underwent allo-HSCT, specifically those lacking common fusion genes and NPM1 mutations but carrying CH and/or MR gene mutations.

You may qualify if:

• Diagnosis of acute myeloid leukemia (AML).
• Undergoing allogeneic hematopoietic stem cell transplantation (allo-HSCT) at the investigating center.
• Negative for recurrent fusion genes routinely monitored in the clinical laboratory, including but not limited to AML1::ETO, CBFB::MYH11, KMT2A (MLL) rearrangements, NUP98::NSD1, NUP98::HOXA9, FUS::ERG, DEK::NUP214, SET::NUP214, PICALM::AF10, and BCR::ABL1.
• Availability of next-generation sequencing (NGS) results at initial diagnosis with accessible original reports.
• Negative for NPM1 mutations at initial diagnosis.
• Presence of clonal hematopoiesis (CH) and/or myelodysplasia-related (MR) gene mutations at initial diagnosis, including but not limited to DNMT3A, TET2, ASXL1, SRSF2, SF3B1, U2AF1, JAK2, IDH2, BCOR, EZH2, RUNX1, STAG2, and ZRSR2.

You may not qualify if:

• Patients with mutation profiles unsuitable for the design of patient-specific digital PCR (dPCR) assays achieving a sensitivity of ≤0.1%.
• Absence of evaluable molecular targets for longitudinal MRD monitoring.

Sponsors & Collaborators

• Peking University People's Hospital: lead

Study Sites (1)

Peking University People's Hospital

Beijing, Beijing Municipality, China

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Bone marrow samples (leftover specimens from routine clinical testing) collected at 0, 1, 2, 3, 4.5, 6, 9, and 12 months post-transplantation. Extracted DNA from these samples will be retained for individualized digital PCR analysis.

MeSH Terms

Conditions

Leukemia, Myeloid, Acute; Neoplasm, Residual

Condition Hierarchy (Ancestors)

Leukemia, Myeloid; Leukemia; Neoplasms by Histologic Type; Neoplasms; Hematologic Diseases; Hemic and Lymphatic Diseases; Neoplastic Processes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Ya-zhen Qin, Ph.D

  Peking University People's Hospital

  PRINCIPAL INVESTIGATOR

• Meng Lv, M.D,Ph.D

  Peking University People's Hospital

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Meng Lv, M.D,Ph.D

CONTACT

+861088324637; drlvmeng@bjmu.edu.cn

Ya-zhen Qin, Ph.D

CONTACT

+861088324702; qin2000@aliyun.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Chief Physician & Associate Professor

Study Record Dates

• First Submitted: March 24, 2026
• First Posted: March 30, 2026
• Study Start: March 20, 2026
• Primary Completion (Estimated): December 31, 2027
• Study Completion (Estimated): December 31, 2029
• Last Updated: March 30, 2026

Record last verified: 2026-03

Locations

CN (1)