Acute Myeloid LeukemiaAMANITANCT07874100
This Study Aims to Improve the Stratification of Patients With Acute Myeloid Leukemia to Enable More Personalized and Effective Treatments, and to Identify and Functionally Validate, at the Single-cell Level, Biomarkers That Can Predict Response to Venetoclax.
A study testing Bulk genotyping of AML samples at diagnosis and relapse, scRNA analysis at diagnosis, scRNAseq and genotyping analysis at day 28 after therapy, spatial transcriptomic analysis at day 0 and 28 in people with Acute Myeloid Leukemia, run by Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico at 1 site in Italy.
Trial summary
The current classification of acute myeloid leukemias (AML) includes more than 20 different diseases, grouped based on their distinctive genomic characteristics, which reflect substantial heterogeneity. 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?
- Bulk genotyping of AML samples at diagnosis and relapse, scRNA analysis at diagnosis, scRNAseq and genotyping analysis at day 28 after therapy, spatial transcriptomic analysis at day 0 and 28
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 420 participants
- Where
- 1 siteItaly
- Study dates
- 10 May 2022to Dec 2030
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
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
Who may be able to join
- AML diagnosis
Who cannot join
- any condition that can interfere with the protocol or with the informed consent subscription
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Italy1 site, 1 recruiting
- Recruiting
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico - Haematology Unit
Milan, 20122
Niccolò Bolli, MD, PhD, +3902255033334, niccolo.bolli@policlinico.mi.it
About this study
Official title: Analisi Geno-trascrittomica Dell'eterogeneità Clonale Nella Leucemia Mieloide Acuta a Livello di Singola Cellula: Implicazioni Per la Diagnosi e la Risposta al Trattamento Con Venetoclax
The current classification of acute myeloid leukemias (AML) includes more than 20 different diseases, grouped based on their distinctive genomic characteristics, which reflect substantial heterogeneity. The rationale underlying this project is the idea that an effective diagnostic process and functional dissection of transcriptional heterogeneity at the single-cell level will lead to the identification of cell-intrinsic or cell-extrinsic biomarkers of response to novel therapies in order to improve patient care. In particular, with the study presented here, the investigators intend to obtain data relating to the sub-classification of patients into genomic subgroups with biological and prognostic relevance. Genomic subgroups are categories into which patients affected by the same disease can be divided based on the genetic characteristics found in each patient. The study foresees that part of the biological sample, collected through bone marrow blood sampling, already provided for by clinical practice will be subjected to further analyses. Specifically, DNA and RNA sequencing analyses will be performed on the cells that will be isolated from the bone marrow blood. The objective is to search for molecular markers that may allow better biological and prognostic classification of patients. Molecular markers are particular DNA sequences that, in our study, would enable the classification of patients into subgroups.
Read the detailed description
The investigators propose to enroll approximately 420 patients (of which 120 patients at the Foundation). The samples, consisting of mononuclear cells purified from bone marrow blood (obtained from bone marrow aspirate) through density gradient, will be collected and frozen under vital conditions. For 4 patients selected for in situ spatial transcriptomic analysis, the investigators will use leftover tissue sections obtained from the bone marrow biopsy performed in routine clinical practice for histopathological analysis. All samples will follow routine diagnostics, with standard karyotyping and conventional sequencing of FLT3 and NPM1 genes in line with current clinical practice. Clinical and laboratory parameters at diagnosis, during treatment, and at any relapse will be recorded in dedicated case report forms (CRFs). A second bone marrow sample will be taken in case of recurrence or refractory disease.
- Bulk genotyping of AML samples at diagnosis and relapse. All patients will be genotyped at diagnosis by NGS of a 69-gene panel involved in myeloid neoplasms and including targets relevant from a diagnostic, prognostic, and therapeutic standpoint. This will allow sub-classification of patients into genomic subgroups with biological and prognostic relevance. Cases will also be sequenced at relapse or in case of refractory disease. In this way, it will be possible to identify genomic lesions associated with chemoresistance and gene mutations that serve as markers for personalized targeted treatments and that could emerge during therapy.
- Single-cell analysis at diagnosis. Since AML is clonally heterogeneous, bulk sequencing might not be able to identify genetic or transcriptomic features associated with treatment response, nor to determine the role of the microenvironment. The investigators will therefore select 40 patients (of which 10 at the Foundation) undergoing treatment with venetoclax, provided by normal clinical practice, according to the following criteria: 1) cases with the worst prognosis and not recognized by current routine diagnostics (complex karyotype and/or TP53 abnormalities; RUNX1 gene mutations or mutations in genes encoding spliceosome/chromatin components); 2) NPM1-mutated cases, generally with good prognosis. In these cases, the investigators will perform transcriptome analysis by RNAseq in approximately 5000 single cells using the Chromium Controller instrument from 10x Genomics. Single-cell RNAseq (scRNAseq) libraries will be sequenced on Illumina platforms at a coverage depth of 30,000 reads per cell. This will allow a detailed dissection of heterogeneity at the single-cell level, and in particular: i) the identification of blasts and their distinction from stromal cells and immune microenvironment cells; ii) within blasts, the identification of their transcriptomic profiles and their heterogeneity at the single-cell level; iii) through analysis of expressed mutations and chromosomal copy number alterations, the evaluation of transcriptomic consequences of specific genomic lesions at the single-cell level; iv) as a consequence of the above, the creation of a hierarchy of blasts in these heterogeneous cases; v) analysis of the immune microenvironment; vi) through RNA velocity analysis, the prediction of the state of these cells both in the blast population and in the microenvironment.
- scRNAseq and genotyping analysis at day 28 (d28). All 40 patients will undergo a second bone marrow aspirate, as per normal clinical practice, and it is foreseeable that approximately one-third will show chemoresistance. The investigators will perform scRNAseq and genotyping analysis 28 days from the start of therapy to identify subclones that survive or do not survive therapy and correlate their genomic and transcriptomic characteristics with clinical response. The investigators will also determine the role of the microenvironment, and correlate early modifications found in the bone marrow with longer-term clinical outcome.
- Spatial transcriptomic analysis at day 0 and day 28. In 4 selected patients, the investigators will perform in situ spatial transcriptomic analysis (Xenium 10X Genomics) on osteo-myeloid biopsy, in order to evaluate the expression of target RNA molecules within the bone marrow architecture at single-cell resolution. The investigators will analyze the leftover tissue sections obtained from the BOM performed according to normal clinical practice at diagnosis and after treatment.
- Conditions
- Acute Myeloid Leukemia
- Being tested
- Bulk genotyping of AML samples at diagnosis and relapse, scRNA analysis at diagnosis, scRNAseq and genotyping analysis at day 28 after therapy, spatial transcriptomic analysis at day 0 and 28
- Keywords
- AML, clonal heterogeneity, response to therapy, genomic and transcriptomic markers
- 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.
Bulk genotyping of AML samples at diagnosis and relapse, scRNA analysis at diagnosis, scRNAseq and genotyping analysis at day 28 after therapy, spatial transcriptomic analysis at day 0 and 28Genetic
This intervention enrolls ~420 patients to investigate AML through multi-level genomic and transcriptomic analysis. Bone marrow samples are collected at diagnosis, relapse, and day 28 of treatment. All patients undergo bulk NGS genotyping using a 69-gene panel. Forty patients receiving venetoclax are selected for detailed single-cell RNAseq analysis (~5000 cells) to dissect cellular heterogeneity, identify blast populations, assess microenvironment composition, and predict cell states via RNA velocity. Four patients undergo spatial transcriptomic analysis (Xenium) on bone marrow biopsies at diagnosis and day 28 to evaluate RNA expression within tissue architecture. This comprehensive approach enables identification of genomic/transcriptomic features associated with treatment response, chemoresistance mechanisms, and personalized targeted treatment markers in heterogeneous AML populations.
| Study group | Role | What they receive |
|---|---|---|
| Population under study | Experimental | AML diagnosis, m/f > 18y Receives: Genetic: Bulk genotyping of AML samples at diagnosis and relapse, scRNA analysis at diagnosis, scRNAseq and genotyping analysis at day 28 after therapy, spatial transcriptomic analysis at day 0 and 28 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Definition of a new diagnostic protocol for AML
Main objective of the study is to define a next generation sequencing (NGS) protocol that in the future can be applied to routine AML diagnostics, capable of improving prognostic definition and therapeutic decisions.
In particular, the study aims to correlate genomic and transcriptomic markers with patients' clinical outcome.
Measured: from diagnosis up to 28 days after per patient
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Oct 2026
- Study start10 May 2022
- Primary completionDec 2028 (estimated)
- Study completionDec 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (10)Papers the sponsor has linked to this study.
- Other trials for Acute Myeloid LeukemiaStudies of the same condition, open and under way.
- More trials run by Fondazione IRCCS Ca' Granda, Ospedale Maggiore PoliclinicoThe sponsor's other registered studies.
- 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 420 participants (estimated)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Collaborators
- ASST Grande Ospedale Metropolitano Niguarda, AOU S. Orsola Malpighi, Humanitas Clinical and Research Center, A.O. Ospedale Papa Giovanni XXIII, Azienda Ospedaliero-Universitaria di Parma, Ospedale Policlinico San Martino
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07874100
- Sponsor's protocol ID
- 2860
- Acronym
- AMANITA
- Status last verified
- Oct 2026
- First submitted
- 8 Oct 2026
- Last updated
- 21 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: Consistently with the fundamental research integrity principle of sharing data within the scientific community, genomic and transcriptomic data will be made available to researchers through certified safe repositories with restricted access beyond the end of the project.
Publications
Calling Somatic SNVs and Indels with Mutect2 David Benjamin, Takuto Sato, Kristian Cibulskis, Gad Getz, Chip Stewart, Lee Lichtenstein bioRxiv 861054; doi: https://doi.org/10.1101/861054
Hao Y, Hao S, Andersen-Nissen E, Mauck WM 3rd, Zheng S, Butler A, Lee MJ, Wilk AJ, Darby C, Zager M, Hoffman P, Stoeckius M, Papalexi E, Mimitou EP, Jain J, Srivastava A, Stuart T, Fleming LM, Yeung B, Rogers AJ, McElrath JM, Blish CA, Gottardo R, Smibert P, Satija R. Integrated analysis of multimodal single-cell data. Cell. 2021 Jun 24;184(13):3573-3587.e29. doi: 10.1016/j.cell.2021.04.048. Epub 2021 May 31.
PubMed 34062119Christoforides A, Carpten JD, Weiss GJ, Demeure MJ, Von Hoff DD, Craig DW. Identification of somatic mutations in cancer through Bayesian-based analysis of sequenced genome pairs. BMC Genomics. 2013 May 4;14:302. doi: 10.1186/1471-2164-14-302.
PubMed 23642077Kim S, Scheffler K, Halpern AL, Bekritsky MA, Noh E, Kallberg M, Chen X, Kim Y, Beyter D, Krusche P, Saunders CT. Strelka2: fast and accurate calling of germline and somatic variants. Nat Methods. 2018 Aug;15(8):591-594. doi: 10.1038/s41592-018-0051-x. Epub 2018 Jul 16.
PubMed 30013048Li H, Durbin R. Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics. 2010 Mar 1;26(5):589-95. doi: 10.1093/bioinformatics/btp698. Epub 2010 Jan 15.
PubMed 20080505DiNardo CD, Jonas BA, Pullarkat V, Thirman MJ, Garcia JS, Wei AH, Konopleva M, Dohner H, Letai A, Fenaux P, Koller E, Havelange V, Leber B, Esteve J, Wang J, Pejsa V, Hajek R, Porkka K, Illes A, Lavie D, Lemoli RM, Yamamoto K, Yoon SS, Jang JH, Yeh SP, Turgut M, Hong WJ, Zhou Y, Potluri J, Pratz KW. Azacitidine and Venetoclax in Previously Untreated Acute Myeloid Leukemia. N Engl J Med. 2020 Aug 13;383(7):617-629. doi: 10.1056/NEJMoa2012971.
PubMed 32786187Sekeres MA, Guyatt G, Abel G, Alibhai S, Altman JK, Buckstein R, Choe H, Desai P, Erba H, Hourigan CS, LeBlanc TW, Litzow M, MacEachern J, Michaelis LC, Mukherjee S, O'Dwyer K, Rosko A, Stone R, Agarwal A, Colunga-Lozano LE, Chang Y, Hao Q, Brignardello-Petersen R. American Society of Hematology 2020 guidelines for treating newly diagnosed acute myeloid leukemia in older adults. Blood Adv. 2020 Aug 11;4(15):3528-3549. doi: 10.1182/bloodadvances.2020001920.
PubMed 32761235Gerstung M, Papaemmanuil E, Martincorena I, Bullinger L, Gaidzik VI, Paschka P, Heuser M, Thol F, Bolli N, Ganly P, Ganser A, McDermott U, Dohner K, Schlenk RF, Dohner H, Campbell PJ. Precision oncology for acute myeloid leukemia using a knowledge bank approach. Nat Genet. 2017 Mar;49(3):332-340. doi: 10.1038/ng.3756. Epub 2017 Jan 16.
PubMed 28092685Papaemmanuil E, Gerstung M, Bullinger L, Gaidzik VI, Paschka P, Roberts ND, Potter NE, Heuser M, Thol F, Bolli N, Gundem G, Van Loo P, Martincorena I, Ganly P, Mudie L, McLaren S, O'Meara S, Raine K, Jones DR, Teague JW, Butler AP, Greaves MF, Ganser A, Dohner K, Schlenk RF, Dohner H, Campbell PJ. Genomic Classification and Prognosis in Acute Myeloid Leukemia. N Engl J Med. 2016 Jun 9;374(23):2209-2221. doi: 10.1056/NEJMoa1516192.
PubMed 27276561Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM, Bloomfield CD, Cazzola M, Vardiman JW. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 2016 May 19;127(20):2391-405. doi: 10.1182/blood-2016-03-643544. Epub 2016 Apr 11.
PubMed 27069254
Study at a glance
From the registry record, last updated by the sponsor on 21 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Analisi Geno-trascrittomica Dell'eterogeneità Clonale Nella Leucemia Mieloide Acuta a Livello di Singola Cellula: Implicazioni Per la Diagnosi e la Risposta al Trattamento Con Venetoclax
- ClinicalTrials.gov ID
- NCT07874100
- Acronym / sponsor ID
- AMANITA / 2860
- Conditions
- Acute Myeloid Leukemia
- Keywords
- AML, clonal heterogeneity, response to therapy, genomic and transcriptomic markers
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 420 participants (estimated)
- Lead sponsor
- Fondazione IRCCS Ca' Granda, Ospedale Maggiore PoliclinicoUniversity, hospital or other
- Collaborators
- ASST Grande Ospedale Metropolitano Niguarda, AOU S. Orsola Malpighi, Humanitas Clinical and Research Center, A.O. Ospedale Papa Giovanni XXIII, Azienda Ospedaliero-Universitaria di Parma, Ospedale Policlinico San Martino
- Study start
- 10 May 2022 (actual)
- Primary completion
- Dec 2028 (estimated)
- Study completion
- Dec 2030 (estimated)
- First posted
- 14 Oct 2026 (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.
The current classification of acute myeloid leukemias (AML) includes more than 20 different diseases, grouped based on their distinctive genomic characteristics, which reflect substantial heterogeneity. The rationale underlying this project is the idea that an effective diagnostic process and functional dissection of transcriptional heterogeneity at the single-cell level will lead to the identification of cell-intrinsic or cell-extrinsic biomarkers of response to novel therapies in order to improve patient care. In particular, with the study presented here, the investigators intend to obtain data relating to the sub-classification of patients into genomic subgroups with biological and prognostic relevance. Genomic subgroups are categories into which patients affected by the same disease can be divided based on the genetic characteristics found in each patient. The study foresees that part of the biological sample, collected through bone marrow blood sampling, already provided for by clinical practice will be subjected to further analyses. Specifically, DNA and RNA sequencing analyses will be performed on the cells that will be isolated from the bone marrow blood. The objective is to search for molecular markers that may allow better biological and prognostic classification of patients. Molecular markers are particular DNA sequences that, in our study, would enable the classification of patients into subgroups.
Detailed description
The investigators propose to enroll approximately 420 patients (of which 120 patients at the Foundation). The samples, consisting of mononuclear cells purified from bone marrow blood (obtained from bone marrow aspirate) through density gradient, will be collected and frozen under vital conditions. For 4 patients selected for in situ spatial transcriptomic analysis, the investigators will use leftover tissue sections obtained from the bone marrow biopsy performed in routine clinical practice for histopathological analysis. All samples will follow routine diagnostics, with standard karyotyping and conventional sequencing of FLT3 and NPM1 genes in line with current clinical practice. Clinical and laboratory parameters at diagnosis, during treatment, and at any relapse will be recorded in dedicated case report forms (CRFs). A second bone marrow sample will be taken in case of recurrence or refractory disease.
- Bulk genotyping of AML samples at diagnosis and relapse. All patients will be genotyped at diagnosis by NGS of a 69-gene panel involved in myeloid neoplasms and including targets relevant from a diagnostic, prognostic, and therapeutic standpoint. This will allow sub-classification of patients into genomic subgroups with biological and prognostic relevance. Cases will also be sequenced at relapse or in case of refractory disease. In this way, it will be possible to identify genomic lesions associated with chemoresistance and gene mutations that serve as markers for personalized targeted treatments and that could emerge during therapy.
- Single-cell analysis at diagnosis. Since AML is clonally heterogeneous, bulk sequencing might not be able to identify genetic or transcriptomic features associated with treatment response, nor to determine the role of the microenvironment. The investigators will therefore select 40 patients (of which 10 at the Foundation) undergoing treatment with venetoclax, provided by normal clinical practice, according to the following criteria: 1) cases with the worst prognosis and not recognized by current routine diagnostics (complex karyotype and/or TP53 abnormalities; RUNX1 gene mutations or mutations in genes encoding spliceosome/chromatin components); 2) NPM1-mutated cases, generally with good prognosis. In these cases, the investigators will perform transcriptome analysis by RNAseq in approximately 5000 single cells using the Chromium Controller instrument from 10x Genomics. Single-cell RNAseq (scRNAseq) libraries will be sequenced on Illumina platforms at a coverage depth of 30,000 reads per cell. This will allow a detailed dissection of heterogeneity at the single-cell level, and in particular: i) the identification of blasts and their distinction from stromal cells and immune microenvironment cells; ii) within blasts, the identification of their transcriptomic profiles and their heterogeneity at the single-cell level; iii) through analysis of expressed mutations and chromosomal copy number alterations, the evaluation of transcriptomic consequences of specific genomic lesions at the single-cell level; iv) as a consequence of the above, the creation of a hierarchy of blasts in these heterogeneous cases; v) analysis of the immune microenvironment; vi) through RNA velocity analysis, the prediction of the state of these cells both in the blast population and in the microenvironment.
- scRNAseq and genotyping analysis at day 28 (d28). All 40 patients will undergo a second bone marrow aspirate, as per normal clinical practice, and it is foreseeable that approximately one-third will show chemoresistance. The investigators will perform scRNAseq and genotyping analysis 28 days from the start of therapy to identify subclones that survive or do not survive therapy and correlate their genomic and transcriptomic characteristics with clinical response. The investigators will also determine the role of the microenvironment, and correlate early modifications found in the bone marrow with longer-term clinical outcome.
- Spatial transcriptomic analysis at day 0 and day 28. In 4 selected patients, the investigators will perform in situ spatial transcriptomic analysis (Xenium 10X Genomics) on osteo-myeloid biopsy, in order to evaluate the expression of target RNA molecules within the bone marrow architecture at single-cell resolution. The investigators will analyze the leftover tissue sections obtained from the BOM performed according to normal clinical practice at diagnosis and after treatment.
Study design
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Population under study | Experimental | Genetic: Bulk genotyping of AML samples at diagnosis and relapse, scRNA analysis at diagnosis, scRNAseq and genotyping analysis at day 28 after therapy, spatial transcriptomic analysis at day 0 and 28AML diagnosis, m/f > 18y |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (1 listed)
- AML diagnosis
Key exclusion criteria (1 listed)
- any condition that can interfere with the protocol or with the informed consent subscription
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 |
|---|---|---|
| Bulk genotyping of AML samples at diagnosis and relapse, scRNA analysis at diagnosis, scRNAseq and genotyping analysis at day 28 after therapy, spatial transcriptomic analysis at day 0 and 28This intervention enrolls ~420 patients to investigate AML through multi-level genomic and transcriptomic analysis. Bone marrow samples are collected at diagnosis, relapse, and day 28 of treatment. All patients undergo bulk NGS genotyping using a 69-gene panel. Forty patients receiving venetoclax are selected for detailed single-cell RNAseq analysis (~5000 cells) to dissect cellular heterogeneity, identify blast populations, assess microenvironment composition, and predict cell states via RNA velocity. Four patients undergo spatial transcriptomic analysis (Xenium) on bone marrow biopsies at diagnosis and day 28 to evaluate RNA expression within tissue architecture. This comprehensive approach enables identification of genomic/transcriptomic features associated with treatment response, chemoresistance mechanisms, and personalized targeted treatment markers in heterogeneous AML populations. | Genetic | Population under study |
Primary outcome
Definition of a new diagnostic protocol for AML
Time frame: from diagnosis up to 28 days after per patient
Main objective of the study is to define a next generation sequencing (NGS) protocol that in the future can be applied to routine AML diagnostics, capable of improving prognostic definition and therapeutic decisions. In particular, the study aims to correlate genomic and transcriptomic markers with patients' clinical outcome.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 21 Oct 2026.
- BackgroundCalling Somatic SNVs and Indels with Mutect2 David Benjamin, Takuto Sato, Kristian Cibulskis, Gad Getz, Chip Stewart, Lee Lichtenstein bioRxiv 861054; doi: https://doi.org/10.1101/861054
- Background: PubMed 34062119Hao Y, Hao S, Andersen-Nissen E, Mauck WM 3rd, Zheng S, Butler A, Lee MJ, Wilk AJ, Darby C, Zager M, Hoffman P, Stoeckius M, Papalexi E, Mimitou EP, Jain J, Srivastava A, Stuart T, Fleming LM, Yeung B, Rogers AJ, McElrath JM, Blish CA, Gottardo R, Smibert P, Satija R. Integrated analysis of multimodal single-cell data. Cell. 2021 Jun 24;184(13):3573-3587.e29. doi: 10.1016/j.cell.2021.04.048. Epub 2021 May 31.
- Background: PubMed 23642077Christoforides A, Carpten JD, Weiss GJ, Demeure MJ, Von Hoff DD, Craig DW. Identification of somatic mutations in cancer through Bayesian-based analysis of sequenced genome pairs. BMC Genomics. 2013 May 4;14:302. doi: 10.1186/1471-2164-14-302.
- Background: PubMed 30013048Kim S, Scheffler K, Halpern AL, Bekritsky MA, Noh E, Kallberg M, Chen X, Kim Y, Beyter D, Krusche P, Saunders CT. Strelka2: fast and accurate calling of germline and somatic variants. Nat Methods. 2018 Aug;15(8):591-594. doi: 10.1038/s41592-018-0051-x. Epub 2018 Jul 16.
- Background: PubMed 20080505Li H, Durbin R. Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics. 2010 Mar 1;26(5):589-95. doi: 10.1093/bioinformatics/btp698. Epub 2010 Jan 15.
- Background: PubMed 32786187DiNardo CD, Jonas BA, Pullarkat V, Thirman MJ, Garcia JS, Wei AH, Konopleva M, Dohner H, Letai A, Fenaux P, Koller E, Havelange V, Leber B, Esteve J, Wang J, Pejsa V, Hajek R, Porkka K, Illes A, Lavie D, Lemoli RM, Yamamoto K, Yoon SS, Jang JH, Yeh SP, Turgut M, Hong WJ, Zhou Y, Potluri J, Pratz KW. Azacitidine and Venetoclax in Previously Untreated Acute Myeloid Leukemia. N Engl J Med. 2020 Aug 13;383(7):617-629. doi: 10.1056/NEJMoa2012971.
- Background: PubMed 32761235Sekeres MA, Guyatt G, Abel G, Alibhai S, Altman JK, Buckstein R, Choe H, Desai P, Erba H, Hourigan CS, LeBlanc TW, Litzow M, MacEachern J, Michaelis LC, Mukherjee S, O'Dwyer K, Rosko A, Stone R, Agarwal A, Colunga-Lozano LE, Chang Y, Hao Q, Brignardello-Petersen R. American Society of Hematology 2020 guidelines for treating newly diagnosed acute myeloid leukemia in older adults. Blood Adv. 2020 Aug 11;4(15):3528-3549. doi: 10.1182/bloodadvances.2020001920.
- Background: PubMed 28092685Gerstung M, Papaemmanuil E, Martincorena I, Bullinger L, Gaidzik VI, Paschka P, Heuser M, Thol F, Bolli N, Ganly P, Ganser A, McDermott U, Dohner K, Schlenk RF, Dohner H, Campbell PJ. Precision oncology for acute myeloid leukemia using a knowledge bank approach. Nat Genet. 2017 Mar;49(3):332-340. doi: 10.1038/ng.3756. Epub 2017 Jan 16.
- Background: PubMed 27276561Papaemmanuil E, Gerstung M, Bullinger L, Gaidzik VI, Paschka P, Roberts ND, Potter NE, Heuser M, Thol F, Bolli N, Gundem G, Van Loo P, Martincorena I, Ganly P, Mudie L, McLaren S, O'Meara S, Raine K, Jones DR, Teague JW, Butler AP, Greaves MF, Ganser A, Dohner K, Schlenk RF, Dohner H, Campbell PJ. Genomic Classification and Prognosis in Acute Myeloid Leukemia. N Engl J Med. 2016 Jun 9;374(23):2209-2221. doi: 10.1056/NEJMoa1516192.
- Background: PubMed 27069254Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM, Bloomfield CD, Cazzola M, Vardiman JW. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 2016 May 19;127(20):2391-405. doi: 10.1182/blood-2016-03-643544. Epub 2016 Apr 11.
- Individual participant dataSharing planned: Yes. Consistently with the fundamental research integrity principle of sharing data within the scientific community, genomic and transcriptomic data will be made available to researchers through certified safe repositories with restricted access beyond the end of the project.
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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.
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico - Haematology Unit
Milan, Italy
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Bulk genotyping of AML samples at diagnosis and relapse, scRNA analysis at diagnosis, scRNAseq and genotyping analysis at day 28 after therapy, spatial transcriptomic analysis at day 0 and 28 in people with Acute Myeloid Leukemia, run by Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico at 1 site in Italy.
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 1 inclusion and 1 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: looking for participants now, as of the sponsor's last update on 21 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Each site lists its own contact: choose the nearest one under Trial locations. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Definition of a new diagnostic protocol for AML (time frame: from diagnosis up to 28 days after per patient). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT07874100, which also lists 10 linked publications.
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 21 Oct 2026.