Diagnostic Platform to Perform Centralized and Standardized Rapid Molecular Diagnosis by Next Generation Sequencing (NGS) in Patients Diagnosed With Acute Myeloid Leukemia.
A COMPREHENSIVE AND RAPID DIAGNOSIS PLATFORM OF PERSONALIZED MEDICINE FOR THE TREATMENT OF ACUTE MYELOID LEUKEMIA. PROSPECTIVE, MULTICENTER AND NON-INTERVENTIONAL STUDY
1 other identifier
observational
900
1 country
7
Brief Summary
NGS studies will be done in stem cell leukemic population. The analysis of the samples to the diagnosis will be carried out using the 26 consensus genes: ASXL1 had, CBL, CEBPA, DNMT3A, EZH2, FLT3, GATA2, IDH1, IDH2, JAK2, KIT, KRAS, MPL, MLL, NPM1, NRAS, PTPN11, RUNX1, SETBP1, SF3B1, SRSF2, TET2, TP53, U2AF1, WT1. Regarding the 26 genes panel, it would have the advantage that the quantification of DNA from each sample will be carried out by fluorimetry using the AmpliSeq or TruSeq on Ion platforms torrent Proton or MySeq are handled in different laboratories. Using NGS techniques the investigator will detect the recurrently mutated genes in AML to establish the biological role of each mutation. The molecular characterization of the 700 samples which are estimated to pick up during the project will consist of massive sequencing of genes recurrently mutated in AML (ASXL1, had, CBL, CEBPA, DNMT3A, EZH2, FLT3, GATA2, IDH1, IDH2, JAK2, KIT, KRAS, MPL, MLL, NPM1, NRAS, PTPN11, RUNX1, SETBP1, SF3B1, SRSF2, TET2, TP53, U2AF1, WT1). Found mutations will be collated in the different databases of somatic variations to establish which of them could be classified as a driver or passenger.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Oct 2017
Typical duration for all trials
7 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
October 4, 2017
CompletedStudy Start
First participant enrolled
October 6, 2017
CompletedFirst Posted
Study publicly available on registry
October 17, 2017
CompletedPrimary Completion
Last participant's last visit for primary outcome
October 15, 2019
CompletedStudy Completion
Last participant's last visit for all outcomes
October 15, 2019
CompletedFebruary 16, 2021
February 1, 2021
2 years
October 4, 2017
February 15, 2021
Conditions
Outcome Measures
Primary Outcomes (1)
Molecular diagnosis of acute myeloid leukemia
To develop a Spanish nationwide diagnostic platform to perform centralized and standardized rapid molecular diagnosis by next generation sequencing (NGS) in patients diagnosed with AML. NGS studies will be done in stem cell leukemic population. The analysis of the samples to the diagnosis will be carried out using the 26 consensus genes: ASXL1 had, CBL, CEBPA, DNMT3A, EZH2, FLT3, GATA2, IDH1, IDH2, JAK2, KIT, KRAS, MPL, MLL, NPM1, NRAS, PTPN11, RUNX1, SETBP1, SF3B1, SRSF2, TET2, TP53, U2AF1, WT1. Regarding the 26 genes panel, it would have the advantage that the quantification of DNA from each sample will be carried out by fluorimetry using the AmpliSeq or TruSeq on Ion platforms torrent Proton or MySeq are handled in different laboratories. Using NGS techniquesthe investigator will detect the recurrently mutated genes in AML to establish the biological role of each mutation.
3 years
Interventions
Using NGS techniques we will detect the recurrently mutated genes in AML to establish the biological role of each mutation
Eligibility Criteria
All adult patients (≥18 years) with AML (excluding APL) according to the WHO criteria (2008), regardless of the treatment administered by their treating physician
You may qualify if:
- All adult patients (≥18 years) with AML (excluding APL) according to the WHO criteria (2008), regardless of the treatment administered by their treating physician.
- Patient has to sign the informed consent form, allowing for sampling, analyses and reporting of the mutational results.
- AML at diagnosis and at relapse or refractoriness.
You may not qualify if:
- Genetic diagnosis of acute promyelocytic leukemia
- No Informed Consent Form
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (7)
Hospital Reina Sofía
Córdoba, Spain
Hospital Dr. Negrín
Las Palmas de Gran Canaria, Spain
Hospital 12 de Octubre
Madrid, Spain
Clínica Universidad de Navarra
Pamplona, Spain
Hospital General Universitario
Salamanca, Spain
Hospital Virgen del Rocío
Seville, Spain
Hospital Universitari i Politècnic La Fe
Valencia, Spain
Biospecimen
bone marrow and peripheral blood samples from AML patients
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Pau Montesinos, Dr
PETHEMA Foundation
Study Design
- Study Type
- observational
- Observational Model
- CASE ONLY
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
October 4, 2017
First Posted
October 17, 2017
Study Start
October 6, 2017
Primary Completion
October 15, 2019
Study Completion
October 15, 2019
Last Updated
February 16, 2021
Record last verified: 2021-02
Data Sharing
- IPD Sharing
- Will not share