Molecular Diagnostic Platform for AML

• Conditions: Acute Myeloid Leukemia (AML)

• Registration Number: NCT04446741
• Lead Sponsor: PETHEMA Foundation

Brief Summary

This will be a translational study without any therapeutic intervention, for the purpose of analyzing the diagnostic and molecular results / characterization of adult patients with AML, regardless of the treatment they receive. Newly diagnosed or relapsed/resistant AML patients will be included.

Detailed Description

This will be a multicenter, translational study without any therapeutic intervention. It will be conducted at 7 central laboratories (Hospital Universitari i Politècnic La Fe, Hospital Universitario de Salamanca, Hospital 12 de Octubre, Hospital Universitario Virgen del Rocío, Hospital Dr. Negrín de Las Palmas de Gran Canaria, Hospital Reina Sofía de Córdoba and Clínica Universidad de Navarra) belonging to the Spanish PETHEMA Group. The laboratories will receive and process bone marrow and peripheral blood samples of patients with AML at the time of the initial diagnosis or at relapse or resistance (first or subsequent relapse/resistance). The demographic data and clinical characteristics of the patients and of the AML, morphological and molecular response will be collected in case report forms (CRFs). Since the aim of this study is the molecular diagnosis of AML, all patients with AML will be included, regardless of the treatment (or no treatment at all) they receive.

The physicians will receive the report about the molecular diagnosis for FLT3, NPM1, CBF and PML/RARa quickly (\<48-96 hours), in order to provide them with knowledge of the mutational status, that may cause changes to be made during the initial management of the disease.

The aim of this project is to set up this rapid screening and diagnostic platform for AML by having specimens sent to 7 centralized reference laboratories across the country, where the molecular characteristics of leukemic cells will be analyzed by qRT-PCR and NGS technologies with high quality standards. This platform will provide homogeneous criteria for assessing the biological characteristics of the different entities that make up the disease.

It is expected that samples of marrow and/or blood of 700 patients with AML will be analyzed per year.

Study Timeline

• Study Start: 2019-10-01
• Study First Submitted: 2020-06-17
• Study First Submitted QC: 2020-06-23
• Study First Posted: 2020-06-25
• Status Verified: 2021-09
• Last Update Submitted: 2021-09-03
• Last Update Posted: 2021-09-05
• Primary Completion: 2022-10
• Study Completion: 2022-10

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 2000

Inclusion Criteria

• Have voluntarily given informed consent for the sending and processing of biological specimens, as well as for the analysis and reporting of the results on the mutation status of their AML.
• Age greater than or equal to 18 years.
• Morphological diagnosis of AML or acute leukemia of ambiguous lineage according to WHO criteria at diagnosis, relapse or resistance.

Exclusion Criteria

• Inability of the patient or his/her legal representative to understand and voluntarily sign the informed consent form

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Frequency of FLT3, NPM1 and CEBPa mutations	Baseline	Frequency of each of the standard screening panel molecular alterations studied in the AML patients (FLT3, NPM1 and CEBPa), both in newly diagnosed and relapsed/resistant disease.

Secondary Outcome Measures

Name	Time	Method
Frequency of mutations detected by Next Generation Sequency (NGS)	Baseline	Frequency of mutations detected by NGS PCR (23 genes: FLT3, NPM1, DNMT3A, IDH2, IDH1, TET2, RUNX1, TP53, NRAS, WT1, PTPN11, KIT, U2AF1, KRAS, SMC1A, SMC3, PHF6, STAG2, RAD21, FAM5C, EZH2 and HNRNPK; if new genes are described,the panel can be extended) in every sample (diagnosis, relapse)
Frequency of mutations detected by conventional PCR (FLT3, NPM1 and CEBPa) in every sample (diagnosis, relapse)	Baseline	Frequency of each of the standard screening panel molecular alterations studied by the conventional PCR in the AML patients (FLT3, NPM1 and CEBPa), both in newly diagnosed and relapsed/resistant disease.

Trial Locations

Locations (7)

Hospital Universitario Reina Sofía; 🇪🇸 Córdoba, Spain

Hospital Universitario Virgen del Rocío; 🇪🇸 Sevilla, Spain

Hospital Universitario de Gran Canaria Dr. Negrín; 🇪🇸 Las Palmas De Gran Canaria, Spain

Hospital Doce de Octubre; 🇪🇸 Madrid, Spain

Clínica Universidad de Navarra; 🇪🇸 Pamplona, Spain

Hospital Universitario de Salamanca; 🇪🇸 Salamanca, Spain

Hospital Universitario La Fe; 🇪🇸 Valencia, Spain