Acute Myeloid LeukemiaNCT03311815
Diagnostic Platform to Perform Centralized and Standardized Rapid Molecular Diagnosis by Next Generation Sequencing (NGS) in Patients Diagnosed With Acute Myeloid Leukemia.
An observational study of Acute Myeloid Leukemia, run by PETHEMA Foundation at 7 sites in Spain.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Acute Myeloid Leukemia
- What is being tested?
- NGS techniques
- How many people
- 900 participants
- Where
- 7 sitesSpain
- Study dates
- 6 Oct 2017to 15 Oct 2019
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: All adult patients (≥18 years) with AML (excluding APL) according to the WHO criteria (2008), regardless of the treatment administered by their treating physician
Who may be able to join
- 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.
Who cannot join
- Genetic diagnosis of acute promyelocytic leukemia
- No Informed Consent Form
Trial locations and contacts
7 sites in 1 country.
7 sites in 1 country
Spain7 sites
Hospital Reina Sofía
Córdoba
Hospital Dr. Negrín
Las Palmas de Gran Canaria
Hospital 12 de Octubre
Madrid
Clínica Universidad de Navarra
Pamplona
Hospital General Universitario
Salamanca
Hospital Virgen del Rocío
Seville
Hospital Universitari i Politècnic La Fe
Valencia
About this study
Official title: A COMPREHENSIVE AND RAPID DIAGNOSIS PLATFORM OF PERSONALIZED MEDICINE FOR THE TREATMENT OF ACUTE MYELOID LEUKEMIA. PROSPECTIVE, MULTICENTER AND NON-INTERVENTIONAL STUDY
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.
Read the detailed description
All patients diagnosed with AML (new diagnosis or relapsed/refractory disease) can be included.
This project aims to establish a platform for comprehensive diagnostic and research platform in the context of the Spanish PETHEMA cooperative group, constituted by 80 institutions and seven central laboratories with extensive technological capacity.
This will be a prospective, multicenter, non-interventional study. It will be performed in 7 central laboratories (Hospital Universitario la Fe, Hospital Universitario de Salamanca, Hospital 12 de Octubre, Hospital Universitario Virgen del Rocío, Hospital Reina Sofía, Hospital Dr. Negrín and Clínica Universidad de Navarra) from the spanish PETHEMA group that will receive and process bone marrow and peripheral blood samples from AML patients at diagnosis and at resistance or first and subsequent relapses. In parallel, all patients will be enrolled in the ongoing PETHEMA epidemiologic registry of AML with a large number of clinical data however no safety information/Adverse Events about drug treatments will be collected. Currently, the PETHEMA group is reporting 600 newly diagnosed patients per year and accounts for 5000 cases in the data-base.
It is expected that the investigator will analyze 450 samples from 450 newly diagnosed patients that will participate in this study in a period of 2 years (225 per year). This means that roughly 40% of all AML patients from the PETHEMA group institutions will be included in the study.
In addition, other 250 samples from relapsing/refractory patients will be included in 2 years. Of these 250 samples form relapsing/refractory patients, it is expected that 150 samples will be drawn from patients in whom the sample was already analyzed at diagnosis in the current study, and 100 samples will be drawn form 100 additional patients that were not previously included in the study at the initial diagnosis. So, the expected distribution of analyzed samples will be: 450 at diagnosis, 150 resampling at first relapse from patients already analyzed at diagnosis, and 100 samples at first or subsequent relapse from patients not included in the study at the time of diagnosis. The investigator expect at least 500 patients and 700 samples.
Molecular diagnosis by NGS will be rapidly reported to the treating physician (<48-72 hours), in order to facilitate inclusion of patients in potential targeted therapy trials in AML.
Through the analysis of leukemic cells in samples from a large cohort of patients treated homogeneously, it is intended to delve into the prognostic value of genetic lesions that are observed at diagnosis by means of a large panel of mutations by next-generation sequencing. Thanks to this ambitious cooperative study, the investigator will be in an unprecedented and novel situation to understand the cellular mechanisms associated with chemoresistance of leukemic cells. This could allow us to design new therapeutic strategies of personalized medicine that will be able to eradicate these cells with minimal toxic effects on patients with AML.
- Conditions
- Acute Myeloid Leukemia
- Being tested
- NGS techniques
- Medical subject headings
- Leukemia, Myeloid, Acute
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
NGS techniquesDiagnostic test
Using NGS techniques we will detect the recurrently mutated genes in AML to establish the biological role of each mutation
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Oct 2017
- Study start6 Oct 2017
- Primary completion15 Oct 2019
- Study completion15 Oct 2019
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Acute Myeloid LeukemiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 900 participants (actual)
Sponsor and investigators
- Lead sponsor
- PETHEMA Foundation
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Pau Montesinos, Dr, Principal investigator, PETHEMA Foundation
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03311815
- Sponsor's protocol ID
- NGS-LMA
- Status last verified
- Feb 2021
- First submitted
- 4 Oct 2017
- Last updated
- 16 Feb 2021
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 16 Feb 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A COMPREHENSIVE AND RAPID DIAGNOSIS PLATFORM OF PERSONALIZED MEDICINE FOR THE TREATMENT OF ACUTE MYELOID LEUKEMIA. PROSPECTIVE, MULTICENTER AND NON-INTERVENTIONAL STUDY
- ClinicalTrials.gov ID
- NCT03311815
- Acronym / sponsor ID
- NGS-LMA
- Conditions
- Acute Myeloid Leukemia
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 900 participants (actual)
- Lead sponsor
- PETHEMA FoundationUniversity, hospital or other
- Study start
- 6 Oct 2017 (actual)
- Primary completion
- 15 Oct 2019 (actual)
- Study completion
- 15 Oct 2019 (actual)
- First posted
- 17 Oct 2017 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
All patients diagnosed with AML (new diagnosis or relapsed/refractory disease) can be included.
This project aims to establish a platform for comprehensive diagnostic and research platform in the context of the Spanish PETHEMA cooperative group, constituted by 80 institutions and seven central laboratories with extensive technological capacity.
This will be a prospective, multicenter, non-interventional study. It will be performed in 7 central laboratories (Hospital Universitario la Fe, Hospital Universitario de Salamanca, Hospital 12 de Octubre, Hospital Universitario Virgen del Rocío, Hospital Reina Sofía, Hospital Dr. Negrín and Clínica Universidad de Navarra) from the spanish PETHEMA group that will receive and process bone marrow and peripheral blood samples from AML patients at diagnosis and at resistance or first and subsequent relapses. In parallel, all patients will be enrolled in the ongoing PETHEMA epidemiologic registry of AML with a large number of clinical data however no safety information/Adverse Events about drug treatments will be collected. Currently, the PETHEMA group is reporting 600 newly diagnosed patients per year and accounts for 5000 cases in the data-base.
It is expected that the investigator will analyze 450 samples from 450 newly diagnosed patients that will participate in this study in a period of 2 years (225 per year). This means that roughly 40% of all AML patients from the PETHEMA group institutions will be included in the study.
In addition, other 250 samples from relapsing/refractory patients will be included in 2 years. Of these 250 samples form relapsing/refractory patients, it is expected that 150 samples will be drawn from patients in whom the sample was already analyzed at diagnosis in the current study, and 100 samples will be drawn form 100 additional patients that were not previously included in the study at the initial diagnosis. So, the expected distribution of analyzed samples will be: 450 at diagnosis, 150 resampling at first relapse from patients already analyzed at diagnosis, and 100 samples at first or subsequent relapse from patients not included in the study at the time of diagnosis. The investigator expect at least 500 patients and 700 samples.
Molecular diagnosis by NGS will be rapidly reported to the treating physician (<48-72 hours), in order to facilitate inclusion of patients in potential targeted therapy trials in AML.
Through the analysis of leukemic cells in samples from a large cohort of patients treated homogeneously, it is intended to delve into the prognostic value of genetic lesions that are observed at diagnosis by means of a large panel of mutations by next-generation sequencing. Thanks to this ambitious cooperative study, the investigator will be in an unprecedented and novel situation to understand the cellular mechanisms associated with chemoresistance of leukemic cells. This could allow us to design new therapeutic strategies of personalized medicine that will be able to eradicate these cells with minimal toxic effects on patients with AML.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- All adult patients (≥18 years) with AML (excluding APL) according to the WHO criteria (2008), regardless of the treatment administered by their treating physician
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (2 listed)
- Genetic diagnosis of acute promyelocytic leukemia
- No Informed Consent Form
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| NGS techniquesUsing NGS techniques we will detect the recurrently mutated genes in AML to establish the biological role of each mutation | Diagnostic test | – |
Primary outcome
Molecular diagnosis of acute myeloid leukemia
Time frame: 3 years
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.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Feb 2021.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Pau Montesinos, Dr principal investigator
PETHEMA Foundation
7 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Acute Myeloid Leukemia, run by PETHEMA Foundation at 7 sites in Spain.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 16 Feb 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 7 sites in Spain. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Molecular diagnosis of acute myeloid leukemia (time frame: 3 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 16 Feb 2021.