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RecruitingNCT00662090EWOG MDS 2006Updated May 4, 2026

Study for Epidemiology and Characterization of Myelodysplastic Syndromes (MDS) and Juvenile Myelomonocytic Leucemia (JMML) in Childhood

An observational study in Myelodysplastic Syndromes and Juvenile Myelomonocytic Leukemia, sponsored by University Hospital Freiburg. Recruiting at 1 site in Germany. Open to participants aged Up to 17 Years. Per ClinicalTrials.gov, last updated 2026-05-04.

Sponsored by University Hospital Freiburg · Observational

From the registry’s dates

  • Started Apr 2010; still recruiting 16 years 7 months later.
Study type
Observational
Model
Other
Time perspective
Prospective
Enrollment
260
Ages
Up to 17 Years
Sex
All
01

Study summary

The aim of the study is to improve the accuracy of diagnosis for children and adolescents with MDS by a standardized review of morphology and standardized cytogenetic and molecular analysis.

The primary objectives of the study are:

  • To evaluate the frequency of the different subtypes of MDS in childhood and adolescence by a standardized diagnostic approach
  • To evaluate the frequency of cytogenetic and molecular abnormalities:

Specifically using array-CGH to evaluate the frequency of subtle chromosomal imbalances, i.e. gains and losses of defined chromosomal regions, and amplifications.

Specifically using mFISH to identify unknown chromosomal aberrations, particularly subtle translocations involving new candidate genes, and to better define chromosomal breakpoints.

The secondary objectives of the study are:

  • To assess survival for children and adolescents with MDS and JMML
  • To evaluate relapse rate, morbidity and mortality in children with MDS and JMML treated by HSCT
02

Conditions studied

  • Myelodysplastic Syndromes
  • Juvenile Myelomonocytic Leukemia

Keywords

  • MDS
  • JMML
  • EWOG-MDS
  • Myelodysplastic Syndromes (MDS)
  • Juvenile Myelomonocytic Leukemia (JMML)
03

In context

Myelodysplastic Syndromes

1,997 studies on the registry are indexed under Myelodysplastic Syndromes; 324 are open to participants now.

This study's planned enrollment of 260 is above the median of 150 across 214 observational studies indexed under Myelodysplastic Syndromes.

Browse Myelodysplastic Syndromes studies →

Lead sponsor

University Hospital Freiburg is the lead sponsor of 94 studies on the registry; 18 are open to participants now.

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
Up to 17 Years
Sexes eligible
All
Accepts healthy volunteers
No
Sampling method
Non-probability sample

Study population

MDS and JMML diagnosted

Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.

Inclusion criteria

  • Written by the caretakers and whenever possible the patient's assent.
  • Confirmed diagnosis of MDS or JMML (morphology, cytogenetics)
  • Myeloid leukemia of Down syndrome (patients aged > 6 years).
  • Age less than 18 years

Exclusion criteria

Exclusion Criteria:

  • Denied and/or assent by caretakers/patient.
  • Myeloid leukemia of Down syndrome (patients \< 6 years).
  • Participation in another study within the last 4 weeks (except for therapy optimizing studies in cancer or bone marrow failure disorders and studies in diagnostics).
Terms in these criteria, in plain language(1)

Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.

Informed consent

Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.

You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.

05

Study design

Observational model
Other
Time perspective
Prospective
Enrollment
260 participants (estimated)
Biospecimen retention
Samples with dna
06

What researchers measure

Primary outcomes

  1. To evaluate the frequency of the different subtypes of MDS in childhood and adolescence by a standardized diagnostic approach

    Time frame: 5 years

  2. To evaluate the frequency of cytogenetic and molecular abnormalities

    Time frame: 5 years

Secondary outcomes

  1. To assess survival for children and adolescents with MDS and JMML

    Time frame: 5 years

  2. To evaluate relapse rate, morbidity and mortality in children with MDS and JMML treated by HSCT

    Time frame: 5 years

07

Study locations

1 of 1 sites recruiting
  • University Hospital of Freiburg
    Freiburg im Breisgau, Baden-Wurttemberg 79106, Germany
    Recruiting
08

References and documents

Publications

  • Drexler B, Schwarz-Furlan S, Baumann I, Rudelius M, Nollke P, Lebrecht D, Ramamoorthy S, Rotari N, Karow A, Hirabayashi S, Beier F, Behrens YL, Gohring G, Kalb R, Wlodarski MW, Strahm B, Erlacher M, Niemeyer CM, Yoshimi A. Long-term outcomes of patients with refractory cytopenia of childhood under observation only. Blood Adv. 2025 Aug 26;9(16):4279-4285. doi: 10.1182/bloodadvances.2025016136. PubMed 40554414 ↗
  • Erlacher M, Andresen F, Sukova M, Stary J, De Moerloose B, Bosch JVWT, Dworzak M, Seidel MG, Polychronopoulou S, Beier R, Kratz CP, Nathrath M, Fruhwald MC, Gohring G, Bergmann AK, Mayerhofer C, Lebrecht D, Ramamoorthy S, Yoshimi A, Strahm B, Wlodarski MW, Niemeyer CM. Spontaneous remission and loss of monosomy 7: a window of opportunity for young children with SAMD9L syndrome. Haematologica. 2024 Feb 1;109(2):422-430. doi: 10.3324/haematol.2023.283591. PubMed 37584291 ↗
  • Jorgensen SF, Buechner J, Myhre AE, Galteland E, Spetalen S, Kulseth MA, Sorte HS, Holla OL, Lundman E, Alme C, Heier I, Flaegstad T, Floisand Y, Benneche A, Fevang B, Aukrust P, Stray-Pedersen A, Gedde-Dahl T, Nordoy I. A Nationwide Study of GATA2 Deficiency in Norway-the Majority of Patients Have Undergone Allo-HSCT. J Clin Immunol. 2022 Feb;42(2):404-420. doi: 10.1007/s10875-021-01189-y. Epub 2021 Dec 10. PubMed 34893945 ↗
  • Aalbers AM, van den Heuvel-Eibrink MM, Baumann I, Dworzak M, Hasle H, Locatelli F, De Moerloose B, Schmugge M, Mejstrikova E, Novakova M, Zecca M, Zwaan CM, Te Marvelde JG, Langerak AW, van Dongen JJ, Pieters R, Niemeyer CM, van der Velden VH. Bone marrow immunophenotyping by flow cytometry in refractory cytopenia of childhood. Haematologica. 2015 Mar;100(3):315-23. doi: 10.3324/haematol.2014.107706. Epub 2014 Nov 25. PubMed 25425683 ↗
  • Aalbers AM, van den Heuvel-Eibrink MM, Baumann I, Beverloo HB, Driessen GJ, Dworzak M, Fischer A, Gohring G, Hasle H, Locatelli F, De Moerloose B, Noellke P, Schmugge M, Stary J, Yoshimi A, Zecca M, Zwaan CM, van Dongen JJ, Pieters R, Niemeyer CM, van der Velden VH, Langerak AW. T-cell receptor Vbeta skewing frequently occurs in refractory cytopenia of childhood and is associated with an expansion of effector cytotoxic T cells: a prospective study by EWOG-MDS. Blood Cancer J. 2014 May 2;4(5):e209. doi: 10.1038/bcj.2014.28. PubMed 24786393 ↗
  • Yoshimi A, van den Heuvel-Eibrink MM, Baumann I, Schwarz S, Simonitsch-Klupp I, de Paepe P, Campr V, Kerndrup GB, O'Sullivan M, Devito R, Leguit R, Hernandez M, Dworzak M, de Moerloose B, Stary J, Hasle H, Smith OP, Zecca M, Catala A, Schmugge M, Locatelli F, Fuhrer M, Fischer A, Guderle A, Nollke P, Strahm B, Niemeyer CM. Comparison of horse and rabbit antithymocyte globulin in immunosuppressive therapy for refractory cytopenia of childhood. Haematologica. 2014 Apr;99(4):656-63. doi: 10.3324/haematol.2013.095786. Epub 2013 Oct 25. PubMed 24162791 ↗
  • Gohring G, Michalova K, Beverloo HB, Betts D, Harbott J, Haas OA, Kerndrup G, Sainati L, Bergstraesser E, Hasle H, Stary J, Trebo M, van den Heuvel-Eibrink MM, Zecca M, van Wering ER, Fischer A, Noellke P, Strahm B, Locatelli F, Niemeyer CM, Schlegelberger B. Complex karyotype newly defined: the strongest prognostic factor in advanced childhood myelodysplastic syndrome. Blood. 2010 Nov 11;116(19):3766-9. doi: 10.1182/blood-2010-04-280313. Epub 2010 Aug 27. PubMed 20802024 ↗
09

Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on May 4, 2026, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
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Registry details

Key details

Study ID
NCT00662090
Lead sponsor
University Hospital Freiburg
Responsible party
Charlotte Niemeyer, MD (Prof. Dr. Charlotte Niemeyer, MD, University Hospital Freiburg) — Principal investigator
First posted
Apr 21, 2008
Start date
Apr 2010
Primary completion
Dec 2027 (estimated)
Completion
Dec 2027 (estimated)
Last update
May 4, 2026

Study contacts

Charlotte M. Niemeyer, M.D.
Contact
charlotte.niemeyer@uniklinik-freiburg.de
49-761-270 ext. 45060
Charlotte M. Niemeyer, M.D.
principal investigator · University of Freiburg

Oversight

Data monitoring committee
No
View the source record on ClinicalTrials.gov ↗

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