NCT02619565

Brief 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. Patients are affected by ineffective hematopoiesis and a propensity to leukemia in the elderly with a global incidence of 10/100,000/year.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
349

participants targeted

Target at P75+ for not_applicable

Timeline
Completed

Started Apr 2010

Longer than P75 for not_applicable

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

April 12, 2010

Completed
5 years until next milestone

First Submitted

Initial submission to the registry

April 20, 2015

Completed
8 months until next milestone

First Posted

Study publicly available on registry

December 2, 2015

Completed
1.5 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

June 12, 2017

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

June 12, 2017

Completed
Last Updated

September 8, 2025

Status Verified

September 1, 2025

Enrollment Period

7.2 years

First QC Date

April 20, 2015

Last Update Submit

September 1, 2025

Conditions

Myelodysplastic Syndromes

Keywords

Myelodysplastic syndromesmutationsoverall survivalprognosis

Outcome Measures

Primary Outcomes (2)

  • Number of patients who survived event-free

    5 years

  • Number of surviving patients

    5 years

Secondary Outcomes (2)

  • Number of mutations on event-free survival in myelodysplastic syndromes

    5 years

  • Number of medullary blast and Hemoglobin, platelet and neutrophil polynuclear

    5 years

Study Arms (1)

Blood samples if evolution of the disease

OTHER

blood samples at Day 0 and also if there is an evolution of the disease

Other: blood samples

Interventions

blood samplesOTHER

blood samples at Day 0 and also if there is an evolution of the disease

Blood samples if evolution of the disease

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)

You may qualify if:

  • 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
  • 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

You may not qualify if:

  • 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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Assistance publique-Hôpitaux de Paris, Hôpital Cochin

Paris, 75014, France

Location

Related Publications (13)

  • Damm 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.

    PMID: 22343920BACKGROUND

  • 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.

    PMID: 19474426BACKGROUND

  • Kosmider 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.

    PMID: 19666869BACKGROUND

  • Kosmider 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.

    PMID: 19797729BACKGROUND

  • Nibourel 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.

    PMID: 20489055BACKGROUND

  • Itzykson 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.

    PMID: 21494260BACKGROUND

  • Kosmider 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.

    PMID: 21508122BACKGROUND

  • Quivoron 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.

    PMID: 21723201BACKGROUND

  • Kosmider 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.

    PMID: 20376084BACKGROUND

  • Damm 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.

    PMID: 22064355BACKGROUND

  • Frisan 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.

    PMID: 22160620BACKGROUND

  • Damm 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.

    PMID: 24047651BACKGROUND

  • Damm 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.

    PMID: 21992131BACKGROUND

Related Links

MeSH Terms

Conditions

Myelodysplastic Syndromes

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Bone Marrow DiseasesHematologic DiseasesHemic and Lymphatic Diseases

Intervention Hierarchy (Ancestors)

Specimen HandlingClinical Laboratory TechniquesDiagnostic Techniques and ProceduresDiagnosisPuncturesSurgical Procedures, OperativeInvestigative Techniques

Study Officials

  • Michaela Fontenay, MD, PhD

    Assistance publique-Hôpitaux de Paris and Paris Descartes University.

    STUDY CHAIR

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NA
Masking
NONE
Purpose
DIAGNOSTIC
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

April 20, 2015

First Posted

December 2, 2015

Study Start

April 12, 2010

Primary Completion

June 12, 2017

Study Completion

June 12, 2017

Last Updated

September 8, 2025

Record last verified: 2025-09

Locations

FR(1)