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Molecular Diagnostic Platform for AML

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT04446741
Recruitment Status : Recruiting
First Posted : June 25, 2020
Last Update Posted : September 5, 2021
Information provided by (Responsible Party):
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.

Condition or disease
Acute Myeloid Leukemia (AML)

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.

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Study Type : Observational
Estimated Enrollment : 2000 participants
Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Developing a Molecular Diagnostic Platform for Personalized Medicine for Acute Myeloid Leukemia
Actual Study Start Date : October 1, 2019
Estimated Primary Completion Date : October 2022
Estimated Study Completion Date : October 2022

Acute Myeloid Leukemia (AML)
Newly diagnosed or relapsed/resistant AML

Primary Outcome Measures :
  1. Frequency of FLT3, NPM1 and CEBPa mutations [ Time Frame: 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 :
  1. Frequency of mutations detected by Next Generation Sequency (NGS) [ Time Frame: 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)

  2. Frequency of mutations detected by conventional PCR (FLT3, NPM1 and CEBPa) in every sample (diagnosis, relapse) [ Time Frame: 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.

Biospecimen Retention:   Samples With DNA
Bone marrow and peripheral blood samples

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   18 Years to 99 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients aged ≥18 years with a diagnosis of AML (new, relapse or refractory).

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT04446741

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Contact: Olga Garcia +34 609 128 678

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Hospital Universitario Reina Sofía Recruiting
Córdoba, Spain
Contact: Joaquín Sánchez         
Principal Investigator: Joaquín Sánchez         
Hospital Universitario de Gran Canaria Dr. Negrín Recruiting
Las Palmas De Gran Canaria, Spain
Contact: Maite Gómez Casares         
Principal Investigator: Maite Gómez Casares         
Hospital Doce de Octubre Recruiting
Madrid, Spain
Contact: Rosa Ayala         
Principal Investigator: Rosa Ayala         
Clínica Universidad de Navarra Recruiting
Pamplona, Spain
Contact: María José Calasanz         
Principal Investigator: María José Calasanz         
Hospital Universitario de Salamanca Recruiting
Salamanca, Spain
Contact: Carmen Chillon         
Principal Investigator: Carmen Chillon         
Hospital Universitario Virgen del Rocío Recruiting
Sevilla, Spain
Contact: José Antonio Pérez Simón         
Principal Investigator: José Antonio Pérez Simón         
Hospital Universitario La Fe Recruiting
Valencia, Spain
Contact: Eva Barragan         
Principal Investigator: Eva Barragán         
Sponsors and Collaborators
PETHEMA Foundation
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Principal Investigator: Pau Montesinos Hospital Universitario La Fe

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Responsible Party: PETHEMA Foundation Identifier: NCT04446741    
Other Study ID Numbers: PCR-LMA
First Posted: June 25, 2020    Key Record Dates
Last Update Posted: September 5, 2021
Last Verified: September 2021

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by PETHEMA Foundation:
Additional relevant MeSH terms:
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Leukemia, Myeloid
Leukemia, Myeloid, Acute
Neoplasms by Histologic Type