Myelodysplastic SyndromesMDS04NCT02619565
Prospective Study of Molecular Predictors of Survival in Myelodysplastic Syndromes
A study testing blood samples in people with Myelodysplastic Syndromes, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial summary
This study aims at prospectively enrolling a cohort of 400 incident cases of myelodysplastic syndromes (MDS) at diagnosis, to evaluate the impact of recurrent mutations on overall survival and event-free survival, using next generation sequencing. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Myelodysplastic Syndromes
- What is being tested?
- blood samples
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 349 participants
- Where
- 1 siteFrance
- Study dates
- 12 Apr 2010to 12 Jun 2017
- Phase
- Interventional
- 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
Who may be able to join
- Myelodysplastic syndromes, mixed myelodysplastic/myeloproliferative disorders or secondary acute myeloid leukemia at diagnosis:
- De novo MDS subtype according to the WHO classification: RCMD and RA with or without ring sideroblasts, RAEB 1, or MDS-U, RAEB 2, therapy-related MDS or sAML, MDS/MPD.
- IPSS
- Documented chromosome 5 and 7 abnormality (del(5q) or -5, del(7q) or -7) by FISH analysis, if possible AND
- ECOG performance status ≤ 2
- Age ≥ 18 years
Show all 10Show fewer
- Life expectancy ≥ 3 months
- Adequate renal and liver function (transaminases serum levels ≤ 3N; calculated creatinine clearance > 40 ml/min)
- Signed informed consent prior to start of any study-specific procedures
- Ability to participate to a clinical trial and adhere to study procedures
Who cannot join
- Active serious infection not controlled by oral or intravenous antibiotics
- Treatment with any investigational antileukemic agent or chemotherapy at least 6 weeks prior to study entry and lack of full recovery from side effects due to prior therapy independent of when that therapy were given
- Rapidly progressive disease with compromised organ function judged to be life-threatening by the Investigator
- Pregnant or lactating female
- Known human immunodeficiency virus (HIV) infection
- Known active hepatitis B and/or C virus infection
- ECOG performance status > 2
- Age < 18 years
Trial locations and contacts
1 site in 1 country.
France1 site
Assistance publique-Hôpitaux de Paris, Hôpital Cochin
Paris, 75014
About this study
Official title: Prognostic Value of Recurrent Mutations in a Prospective Cohort of Myelodysplasia and Secondary Acute Myeloid Leukemias
This study aims at prospectively enrolling a cohort of 400 incident cases of myelodysplastic syndromes (MDS) at diagnosis, to evaluate the impact of recurrent mutations on overall survival and event-free survival, using next generation sequencing. Patients are affected by ineffective hematopoiesis and a propensity to leukemia in the elderly with a global incidence of 10/100,000/year.
Read the detailed description
Myelodysplastic syndromes (MDS) are a heterogeneous group of stem cell disorders characterized by ineffective hematopoiesis with dysplasia and a propensity to acute myeloid leukemia. Patients are affected in the elderly with a global incidence of 10/100,000/year.
During the past 3 years, a significant progress has been made in the understanding of molecular pathogenesis through identification of mutations in epigenetic genes like TET2, ASXL1, EZH2, RUNX1, DNMT3A, IDH1/2, transcription factors, signalling molecules, cohesion and splicing regulators. Inactivating mutations targeting the hematopoietic stem cell may alter its gene expression pattern and could be an early mechanism of clonal selection. However, a single genetic alteration does not readily recapitulate the apoptotic and dysplastic phenotype. Several clones may co-exist, but their architecture is still unclear.
This study aims at prospectively enrolling a cohort of 350 incident cases at diagnosis, to identify evaluate the impact of recurrent mutations on overall survival and event-free survival, using next generation sequencing.
Considering the current knowledge, investigators propose to:
- perform whole exome sequencing to identify new mutations in a subset of 30 patients at diagnosis and in 10/30 samples at follow-up, and validate the recurrence of the new mutations in a training set.
- validate a high throughput technology for extensive genotyping to determine the mutational status of 54 target genes in the entire prospective cohort.
- analyze the frequency and impact on phenotype, OS and EFS of the most frequent mutations including SF3B1, SRSF2, ZRSR2, U2AF1, TET2, ASXL1, EZH2, IDH1/2, DNMT3A, NRAS, TP53, and RUNX1 and possibly of the newly discovered new mutations. Individual follow-up will be 36 months.
As ancillary studies, the evolution of mutation profiles after leukemic transformation in 10/30 MDS tested by WES, or after evaluation of the response to treatments in 100 MDS included in clinical trials of the "Groupe Francophone des Myélodysplasies" will be analyzed.
Understanding clonal architecture at diagnosis and after leukemic transformation is crucial for the knowledge of the pathophysiology of MDS. Better knowledge could help to adapt the therapeutic strategy. The study will help to delineate the pattern of genes which mutations with independent prognostic value modify the natural course of the disease. Then, investigators will apply for a grant to support a medico-economic evaluation of the molecular diagnosis in MDS.
- Conditions
- Myelodysplastic Syndromes
- Being tested
- blood samples
- Keywords
- Myelodysplastic syndromes, mutations, overall survival, prognosis
- Medical subject headings
- Myelodysplastic Syndromes
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
blood samplesOther
blood samples at Day 0 and also if there is an evolution of the disease
| Study group | Role | What they receive |
|---|---|---|
| Blood samples if evolution of the disease | Other | blood samples at Day 0 and also if there is an evolution of the disease Receives: Other: blood samples |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of patients who survived event-free
Measured: 5 years
Number of surviving patients
Measured: 5 years
Secondary outcomes (2)
Number of mutations on event-free survival in myelodysplastic syndromes
prevalence of TET2 mutation and other karyotypic abnormalities
Measured: 5 years
Number of medullary blast and Hemoglobin, platelet and neutrophil polynuclear
to evaluate response to treatment
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Dec 2015 (estimated)
- Study start12 Apr 2010
- Primary completion12 Jun 2017
- Study completion12 Jun 2017
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (13)Papers the sponsor has linked to this study.
- Other trials for Myelodysplastic SyndromesStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe 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
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 349 participants (actual)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Collaborators
- Groupe Francophone des Myelodysplasies, Institut National de la Santé Et de la Recherche Médicale, France, Institut Cochin, Gustave Roussy, Cancer Campus, Grand Paris, URC-CIC Paris Descartes Necker Cochin
- Responsible party
- Sponsor
- Investigators
- Michaela Fontenay, MD, PhD, Study chair, Assistance publique-Hôpitaux de Paris and Paris Descartes University.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02619565
- Sponsor's protocol ID
- AOM09236 - P081246
- Acronym
- MDS04
- Status last verified
- Sep 2025
- First submitted
- 20 Apr 2015
- Last updated
- 8 Sep 2025
- Results posted
- No
- Data monitoring committee
- No
Publications
Delhommeau F, Dupont S, Della Valle V, James C, Trannoy S, Masse A, Kosmider O, Le Couedic JP, Robert F, Alberdi A, Lecluse Y, Plo I, Dreyfus FJ, Marzac C, Casadevall N, Lacombe C, Romana SP, Dessen P, Soulier J, Viguie F, Fontenay M, Vainchenker W, Bernard OA. Mutation in TET2 in myeloid cancers. N Engl J Med. 2009 May 28;360(22):2289-301. doi: 10.1056/NEJMoa0810069.
PubMed 19474426Kosmider O, Gelsi-Boyer V, Cheok M, Grabar S, Della-Valle V, Picard F, Viguie F, Quesnel B, Beyne-Rauzy O, Solary E, Vey N, Hunault-Berger M, Fenaux P, Mansat-De Mas V, Delabesse E, Guardiola P, Lacombe C, Vainchenker W, Preudhomme C, Dreyfus F, Bernard OA, Birnbaum D, Fontenay M; Groupe Francophone des Myelodysplasies. TET2 mutation is an independent favorable prognostic factor in myelodysplastic syndromes (MDSs). Blood. 2009 Oct 8;114(15):3285-91. doi: 10.1182/blood-2009-04-215814. Epub 2009 Aug 7.
PubMed 19666869Kosmider O, Gelsi-Boyer V, Ciudad M, Racoeur C, Jooste V, Vey N, Quesnel B, Fenaux P, Bastie JN, Beyne-Rauzy O, Stamatoulas A, Dreyfus F, Ifrah N, de Botton S, Vainchenker W, Bernard OA, Birnbaum D, Fontenay M, Solary E; Groupe Francophone des Myelodysplasies. TET2 gene mutation is a frequent and adverse event in chronic myelomonocytic leukemia. Haematologica. 2009 Dec;94(12):1676-81. doi: 10.3324/haematol.2009.011205. Epub 2009 Oct 1.
PubMed 19797729Nibourel O, Kosmider O, Cheok M, Boissel N, Renneville A, Philippe N, Dombret H, Dreyfus F, Quesnel B, Geffroy S, Quentin S, Roche-Lestienne C, Cayuela JM, Roumier C, Fenaux P, Vainchenker W, Bernard OA, Soulier J, Fontenay M, Preudhomme C. Incidence and prognostic value of TET2 alterations in de novo acute myeloid leukemia achieving complete remission. Blood. 2010 Aug 19;116(7):1132-5. doi: 10.1182/blood-2009-07-234484. Epub 2010 May 20.
PubMed 20489055Itzykson R, Kosmider O, Cluzeau T, Mansat-De Mas V, Dreyfus F, Beyne-Rauzy O, Quesnel B, Vey N, Gelsi-Boyer V, Raynaud S, Preudhomme C, Ades L, Fenaux P, Fontenay M; Groupe Francophone des Myelodysplasies (GFM). Impact of TET2 mutations on response rate to azacitidine in myelodysplastic syndromes and low blast count acute myeloid leukemias. Leukemia. 2011 Jul;25(7):1147-52. doi: 10.1038/leu.2011.71. Epub 2011 Apr 15.
PubMed 21494260Kosmider O, Delabesse E, de Mas VM, Cornillet-Lefebvre P, Blanchet O, Delmer A, Recher C, Raynaud S, Bouscary D, Viguie F, Lacombe C, Bernard OA, Ifrah N, Dreyfus F, Fontenay M; GOELAMS Investigators. TET2 mutations in secondary acute myeloid leukemias: a French retrospective study. Haematologica. 2011 Jul;96(7):1059-63. doi: 10.3324/haematol.2011.040840. Epub 2011 Apr 20.
PubMed 21508122Quivoron C, Couronne L, Della Valle V, Lopez CK, Plo I, Wagner-Ballon O, Do Cruzeiro M, Delhommeau F, Arnulf B, Stern MH, Godley L, Opolon P, Tilly H, Solary E, Duffourd Y, Dessen P, Merle-Beral H, Nguyen-Khac F, Fontenay M, Vainchenker W, Bastard C, Mercher T, Bernard OA. TET2 inactivation results in pleiotropic hematopoietic abnormalities in mouse and is a recurrent event during human lymphomagenesis. Cancer Cell. 2011 Jul 12;20(1):25-38. doi: 10.1016/j.ccr.2011.06.003. Epub 2011 Jun 30.
PubMed 21723201Kosmider O, Gelsi-Boyer V, Slama L, Dreyfus F, Beyne-Rauzy O, Quesnel B, Hunault-Berger M, Slama B, Vey N, Lacombe C, Solary E, Birnbaum D, Bernard OA, Fontenay M. Mutations of IDH1 and IDH2 genes in early and accelerated phases of myelodysplastic syndromes and MDS/myeloproliferative neoplasms. Leukemia. 2010 May;24(5):1094-6. doi: 10.1038/leu.2010.52. Epub 2010 Apr 8. No abstract available.
PubMed 20376084Damm F, Thol F, Kosmider O, Kade S, Loffeld P, Dreyfus F, Stamatoullas-Bastard A, Tanguy-Schmidt A, Beyne-Rauzy O, de Botton S, Guerci-Bresler A, Gohring G, Schlegelberger B, Ganser A, Bernard OA, Fontenay M, Heuser M. SF3B1 mutations in myelodysplastic syndromes: clinical associations and prognostic implications. Leukemia. 2012 May;26(5):1137-40. doi: 10.1038/leu.2011.321. Epub 2011 Nov 8. No abstract available.
PubMed 22064355Frisan E, Vandekerckhove J, de Thonel A, Pierre-Eugene C, Sternberg A, Arlet JB, Floquet C, Gyan E, Kosmider O, Dreyfus F, Gabet AS, Courtois G, Vyas P, Ribeil JA, Zermati Y, Lacombe C, Mayeux P, Solary E, Garrido C, Hermine O, Fontenay M. Defective nuclear localization of Hsp70 is associated with dyserythropoiesis and GATA-1 cleavage in myelodysplastic syndromes. Blood. 2012 Feb 9;119(6):1532-42. doi: 10.1182/blood-2011-03-343475. Epub 2011 Dec 12.
PubMed 22160620Damm F, Chesnais V, Nagata Y, Yoshida K, Scourzic L, Okuno Y, Itzykson R, Sanada M, Shiraishi Y, Gelsi-Boyer V, Renneville A, Miyano S, Mori H, Shih LY, Park S, Dreyfus F, Guerci-Bresler A, Solary E, Rose C, Cheze S, Prebet T, Vey N, Legentil M, Duffourd Y, de Botton S, Preudhomme C, Birnbaum D, Bernard OA, Ogawa S, Fontenay M, Kosmider O. BCOR and BCORL1 mutations in myelodysplastic syndromes and related disorders. Blood. 2013 Oct 31;122(18):3169-77. doi: 10.1182/blood-2012-11-469619. Epub 2013 Sep 18.
PubMed 24047651Damm F, Fontenay M, Bernard OA. Point mutations in myelodysplastic syndromes. N Engl J Med. 2011 Sep 22;365(12):1154-5; author reply 155. doi: 10.1056/NEJMc1108665. No abstract available.
PubMed 21992131Damm F, Kosmider O, Gelsi-Boyer V, Renneville A, Carbuccia N, Hidalgo-Curtis C, Della Valle V, Couronne L, Scourzic L, Chesnais V, Guerci-Bresler A, Slama B, Beyne-Rauzy O, Schmidt-Tanguy A, Stamatoullas-Bastard A, Dreyfus F, Prebet T, de Botton S, Vey N, Morgan MA, Cross NC, Preudhomme C, Birnbaum D, Bernard OA, Fontenay M; Groupe Francophone des Myelodysplasies. Mutations affecting mRNA splicing define distinct clinical phenotypes and correlate with patient outcome in myelodysplastic syndromes. Blood. 2012 Apr 5;119(14):3211-8. doi: 10.1182/blood-2011-12-400994. Epub 2012 Feb 17.
PubMed 22343920
Study at a glance
From the registry record, last updated by the sponsor on 8 Sep 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Prognostic Value of Recurrent Mutations in a Prospective Cohort of Myelodysplasia and Secondary Acute Myeloid Leukemias
- ClinicalTrials.gov ID
- NCT02619565
- Acronym / sponsor ID
- MDS04 / AOM09236 - P081246
- Conditions
- Myelodysplastic Syndromes
- Keywords
- Myelodysplastic syndromes, mutations, overall survival, prognosis
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 349 participants (actual)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Collaborators
- Groupe Francophone des Myelodysplasies, Institut National de la Santé Et de la Recherche Médicale, France, Institut Cochin, Gustave Roussy, Cancer Campus, Grand Paris, URC-CIC Paris Descartes Necker Cochin
- Study start
- 12 Apr 2010 (actual)
- Primary completion
- 12 Jun 2017 (actual)
- Study completion
- 12 Jun 2017 (actual)
- First posted
- 2 Dec 2015 (estimated)
- 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.
This study aims at prospectively enrolling a cohort of 400 incident cases of myelodysplastic syndromes (MDS) at diagnosis, to evaluate the impact of recurrent mutations on overall survival and event-free survival, using next generation sequencing. Patients are affected by ineffective hematopoiesis and a propensity to leukemia in the elderly with a global incidence of 10/100,000/year.
Detailed description
Myelodysplastic syndromes (MDS) are a heterogeneous group of stem cell disorders characterized by ineffective hematopoiesis with dysplasia and a propensity to acute myeloid leukemia. Patients are affected in the elderly with a global incidence of 10/100,000/year.
During the past 3 years, a significant progress has been made in the understanding of molecular pathogenesis through identification of mutations in epigenetic genes like TET2, ASXL1, EZH2, RUNX1, DNMT3A, IDH1/2, transcription factors, signalling molecules, cohesion and splicing regulators. Inactivating mutations targeting the hematopoietic stem cell may alter its gene expression pattern and could be an early mechanism of clonal selection. However, a single genetic alteration does not readily recapitulate the apoptotic and dysplastic phenotype. Several clones may co-exist, but their architecture is still unclear.
This study aims at prospectively enrolling a cohort of 350 incident cases at diagnosis, to identify evaluate the impact of recurrent mutations on overall survival and event-free survival, using next generation sequencing.
Considering the current knowledge, investigators propose to:
- perform whole exome sequencing to identify new mutations in a subset of 30 patients at diagnosis and in 10/30 samples at follow-up, and validate the recurrence of the new mutations in a training set.
- validate a high throughput technology for extensive genotyping to determine the mutational status of 54 target genes in the entire prospective cohort.
- analyze the frequency and impact on phenotype, OS and EFS of the most frequent mutations including SF3B1, SRSF2, ZRSR2, U2AF1, TET2, ASXL1, EZH2, IDH1/2, DNMT3A, NRAS, TP53, and RUNX1 and possibly of the newly discovered new mutations. Individual follow-up will be 36 months.
As ancillary studies, the evolution of mutation profiles after leukemic transformation in 10/30 MDS tested by WES, or after evaluation of the response to treatments in 100 MDS included in clinical trials of the "Groupe Francophone des Myélodysplasies" will be analyzed.
Understanding clonal architecture at diagnosis and after leukemic transformation is crucial for the knowledge of the pathophysiology of MDS. Better knowledge could help to adapt the therapeutic strategy. The study will help to delineate the pattern of genes which mutations with independent prognostic value modify the natural course of the disease. Then, investigators will apply for a grant to support a medico-economic evaluation of the molecular diagnosis in MDS.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Blood samples if evolution of the disease | Other | Other: blood samplesblood samples at Day 0 and also if there is an evolution of the disease |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (10 listed)
- Myelodysplastic syndromes, mixed myelodysplastic/myeloproliferative disorders or secondary acute myeloid leukemia at diagnosis:
- De novo MDS subtype according to the WHO classification: RCMD and RA with or without ring sideroblasts, RAEB 1, or MDS-U, RAEB 2, therapy-related MDS or sAML, MDS/MPD.
- IPSS
- Documented chromosome 5 and 7 abnormality (del(5q) or -5, del(7q) or -7) by FISH analysis, if possible AND
- ECOG performance status ≤ 2
Key exclusion criteria (8 listed)
- Active serious infection not controlled by oral or intravenous antibiotics
- Treatment with any investigational antileukemic agent or chemotherapy at least 6 weeks prior to study entry and lack of full recovery from side effects due to prior therapy independent of when that therapy were given
- Rapidly progressive disease with compromised organ function judged to be life-threatening by the Investigator
- Pregnant or lactating female
- Known human immunodeficiency virus (HIV) infection
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 |
|---|---|---|
| blood samplesblood samples at Day 0 and also if there is an evolution of the disease | Other | Blood samples if evolution of the disease |
Primary outcome
Number of patients who survived event-free
Time frame: 5 years
Number of surviving patients
Time frame: 5 years
2 secondary outcomes
Number of mutations on event-free survival in myelodysplastic syndromes
Time frame: 5 years
Number of medullary blast and Hemoglobin, platelet and neutrophil polynuclear
Time frame: 5 years
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 8 Sep 2025.
- Background: PubMed 19474426Delhommeau F, Dupont S, Della Valle V, James C, Trannoy S, Masse A, Kosmider O, Le Couedic JP, Robert F, Alberdi A, Lecluse Y, Plo I, Dreyfus FJ, Marzac C, Casadevall N, Lacombe C, Romana SP, Dessen P, Soulier J, Viguie F, Fontenay M, Vainchenker W, Bernard OA. Mutation in TET2 in myeloid cancers. N Engl J Med. 2009 May 28;360(22):2289-301. doi: 10.1056/NEJMoa0810069.
- Background: PubMed 19666869Kosmider O, Gelsi-Boyer V, Cheok M, Grabar S, Della-Valle V, Picard F, Viguie F, Quesnel B, Beyne-Rauzy O, Solary E, Vey N, Hunault-Berger M, Fenaux P, Mansat-De Mas V, Delabesse E, Guardiola P, Lacombe C, Vainchenker W, Preudhomme C, Dreyfus F, Bernard OA, Birnbaum D, Fontenay M; Groupe Francophone des Myelodysplasies. TET2 mutation is an independent favorable prognostic factor in myelodysplastic syndromes (MDSs). Blood. 2009 Oct 8;114(15):3285-91. doi: 10.1182/blood-2009-04-215814. Epub 2009 Aug 7.
- Background: PubMed 19797729Kosmider O, Gelsi-Boyer V, Ciudad M, Racoeur C, Jooste V, Vey N, Quesnel B, Fenaux P, Bastie JN, Beyne-Rauzy O, Stamatoulas A, Dreyfus F, Ifrah N, de Botton S, Vainchenker W, Bernard OA, Birnbaum D, Fontenay M, Solary E; Groupe Francophone des Myelodysplasies. TET2 gene mutation is a frequent and adverse event in chronic myelomonocytic leukemia. Haematologica. 2009 Dec;94(12):1676-81. doi: 10.3324/haematol.2009.011205. Epub 2009 Oct 1.
- Background: PubMed 20489055Nibourel O, Kosmider O, Cheok M, Boissel N, Renneville A, Philippe N, Dombret H, Dreyfus F, Quesnel B, Geffroy S, Quentin S, Roche-Lestienne C, Cayuela JM, Roumier C, Fenaux P, Vainchenker W, Bernard OA, Soulier J, Fontenay M, Preudhomme C. Incidence and prognostic value of TET2 alterations in de novo acute myeloid leukemia achieving complete remission. Blood. 2010 Aug 19;116(7):1132-5. doi: 10.1182/blood-2009-07-234484. Epub 2010 May 20.
- Background: PubMed 21494260Itzykson R, Kosmider O, Cluzeau T, Mansat-De Mas V, Dreyfus F, Beyne-Rauzy O, Quesnel B, Vey N, Gelsi-Boyer V, Raynaud S, Preudhomme C, Ades L, Fenaux P, Fontenay M; Groupe Francophone des Myelodysplasies (GFM). Impact of TET2 mutations on response rate to azacitidine in myelodysplastic syndromes and low blast count acute myeloid leukemias. Leukemia. 2011 Jul;25(7):1147-52. doi: 10.1038/leu.2011.71. Epub 2011 Apr 15.
- Background: PubMed 21508122Kosmider O, Delabesse E, de Mas VM, Cornillet-Lefebvre P, Blanchet O, Delmer A, Recher C, Raynaud S, Bouscary D, Viguie F, Lacombe C, Bernard OA, Ifrah N, Dreyfus F, Fontenay M; GOELAMS Investigators. TET2 mutations in secondary acute myeloid leukemias: a French retrospective study. Haematologica. 2011 Jul;96(7):1059-63. doi: 10.3324/haematol.2011.040840. Epub 2011 Apr 20.
- Background: PubMed 21723201Quivoron C, Couronne L, Della Valle V, Lopez CK, Plo I, Wagner-Ballon O, Do Cruzeiro M, Delhommeau F, Arnulf B, Stern MH, Godley L, Opolon P, Tilly H, Solary E, Duffourd Y, Dessen P, Merle-Beral H, Nguyen-Khac F, Fontenay M, Vainchenker W, Bastard C, Mercher T, Bernard OA. TET2 inactivation results in pleiotropic hematopoietic abnormalities in mouse and is a recurrent event during human lymphomagenesis. Cancer Cell. 2011 Jul 12;20(1):25-38. doi: 10.1016/j.ccr.2011.06.003. Epub 2011 Jun 30.
- Background: PubMed 20376084Kosmider O, Gelsi-Boyer V, Slama L, Dreyfus F, Beyne-Rauzy O, Quesnel B, Hunault-Berger M, Slama B, Vey N, Lacombe C, Solary E, Birnbaum D, Bernard OA, Fontenay M. Mutations of IDH1 and IDH2 genes in early and accelerated phases of myelodysplastic syndromes and MDS/myeloproliferative neoplasms. Leukemia. 2010 May;24(5):1094-6. doi: 10.1038/leu.2010.52. Epub 2010 Apr 8. No abstract available.
- Background: PubMed 22064355Damm F, Thol F, Kosmider O, Kade S, Loffeld P, Dreyfus F, Stamatoullas-Bastard A, Tanguy-Schmidt A, Beyne-Rauzy O, de Botton S, Guerci-Bresler A, Gohring G, Schlegelberger B, Ganser A, Bernard OA, Fontenay M, Heuser M. SF3B1 mutations in myelodysplastic syndromes: clinical associations and prognostic implications. Leukemia. 2012 May;26(5):1137-40. doi: 10.1038/leu.2011.321. Epub 2011 Nov 8. No abstract available.
- Background: PubMed 22160620Frisan E, Vandekerckhove J, de Thonel A, Pierre-Eugene C, Sternberg A, Arlet JB, Floquet C, Gyan E, Kosmider O, Dreyfus F, Gabet AS, Courtois G, Vyas P, Ribeil JA, Zermati Y, Lacombe C, Mayeux P, Solary E, Garrido C, Hermine O, Fontenay M. Defective nuclear localization of Hsp70 is associated with dyserythropoiesis and GATA-1 cleavage in myelodysplastic syndromes. Blood. 2012 Feb 9;119(6):1532-42. doi: 10.1182/blood-2011-03-343475. Epub 2011 Dec 12.
- Background: PubMed 24047651Damm F, Chesnais V, Nagata Y, Yoshida K, Scourzic L, Okuno Y, Itzykson R, Sanada M, Shiraishi Y, Gelsi-Boyer V, Renneville A, Miyano S, Mori H, Shih LY, Park S, Dreyfus F, Guerci-Bresler A, Solary E, Rose C, Cheze S, Prebet T, Vey N, Legentil M, Duffourd Y, de Botton S, Preudhomme C, Birnbaum D, Bernard OA, Ogawa S, Fontenay M, Kosmider O. BCOR and BCORL1 mutations in myelodysplastic syndromes and related disorders. Blood. 2013 Oct 31;122(18):3169-77. doi: 10.1182/blood-2012-11-469619. Epub 2013 Sep 18.
- Background: PubMed 21992131Damm F, Fontenay M, Bernard OA. Point mutations in myelodysplastic syndromes. N Engl J Med. 2011 Sep 22;365(12):1154-5; author reply 155. doi: 10.1056/NEJMc1108665. No abstract available.
- Cancer research for personalized medicine is a consortium dedicated to integrative research against cancer at the Assistance Publique-Hôpitaux de ParisLink provided by the sponsor.
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RecruitingPhase 2
Testing New Therapies for Patients With Acute Myeloid Leukemia Who Are Newly Diagnosed and Have Not Yet Started Treatment (A MyeloMATCH Treatment Trial)
Acute Myeloid Leukemia, Acute Myeloid Leukemia Arising From Previous Myelodysplastic/Myeloproliferative Neoplasm
Active, not recruitingPhase 1/2
Omacetaxine + Azacitidine in Untreated Patients With High Grade MDS
High Grade Myelodysplastic Syndromes
RecruitingPhase 1/2
Pacritinib, a Kinase Inhibitor of CSF1R, IRAK1, JAK2, and FLT3, in Adults and Pediatric Participants 12 Years of Age or Older With Myelodysplastic Syndromes or Myelodysplastic/Myeloproliferative Neoplasms
Myelodysplastic Syndromes
Active, not recruitingPhase 2
Clofarabine and Melphalan Before Donor Stem Cell Transplant in Treating Patients With Myelodysplasia, Acute Leukemia in Remission, or Chronic Myelomonocytic Leukemia
Adult Acute Lymphoblastic Leukemia in Remission, Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome
Not yet recruitingPhase 1
ATRN-119 in Combination With Decitabine in Patients With TP53-Mutated AML or Higher-Risk MDS
Acute Myeloid Leukemia, High-risk Myelodysplastic Syndrome
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.
Michaela Fontenay, MD, PhD study chair
Assistance publique-Hôpitaux de Paris and Paris Descartes University.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing blood samples in people with Myelodysplastic Syndromes, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
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 10 inclusion and 8 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 8 Sep 2025. 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 France. 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?
Number of patients who survived event-free (time frame: 5 years). The study lists 2 primary outcomes in all. 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 NCT02619565, which also lists 13 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 8 Sep 2025.