Myelodysplastic SyndromesEWOG MDS 2006NCT00662090
Study for Epidemiology and Characterization of Myelodysplastic Syndromes (MDS) and Juvenile Myelomonocytic Leucemia (JMML) in Childhood
An observational study of Myelodysplastic Syndromes and Juvenile Myelomonocytic Leukemia, run by University Hospital Freiburg at 1 site in Germany.
Trial 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. Read more about this study
- Who is it for?
- Ages Up to 17 years
- Conditions the study is for
- Myelodysplastic Syndromes, Juvenile Myelomonocytic Leukemia
- How many people
- 260 participants
- Where
- 1 siteGermany
- Study dates
- Apr 2010to Dec 2027
- Phase
- Observational
- 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 Up to 17 years
- All sexes
- No healthy volunteers
- Child
Study population: MDS and JMML diagnosted
Who may be able to join
- Written informed consent 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
Who cannot join
- Denied informed consent 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).
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Germany1 site, 1 recruiting
- Recruiting
University Hospital of Freiburg
Freiburg im Breisgau, Baden-Wurttemberg, 79106
Charlotte M. Niemeyer, M.D., 49-761-270 ext. 4506, charlotte.niemeyer@uniklinik-freiburg.de
Charlotte M. Niemeyer, M.D.
About this study
Official title: Prospective Non-randomized Multi-center Study for Epidemiology and Characterization of Myelodysplastic Syndromes (MDS) and Juvenile Myelomonocytic Leucemia (JMML) in Childhood
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:
Read more
- 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
- Keywords
- MDS, JMML, EWOG-MDS, Myelodysplastic Syndromes (MDS), Juvenile Myelomonocytic Leukemia (JMML)
- Medical subject headings
- Myelodysplastic Syndromes, Leukemia, Myelomonocytic, Juvenile
What is being measured
The primary outcome is the main question the study is designed to answer.
To evaluate the frequency of the different subtypes of MDS in childhood and adolescence by a standardized diagnostic approach
Measured: 5 years
To evaluate the frequency of cytogenetic and molecular abnormalities
Measured: 5 years
Secondary outcomes (2)
To assess survival for children and adolescents with MDS and JMML
Measured: 5 years
To evaluate relapse rate, morbidity and mortality in children with MDS and JMML treated by HSCT
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 posted21 Apr 2008 (estimated)
- Study startApr 2010
- Primary completionDec 2027 (estimated)
- Study completionDec 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (7)Papers the sponsor has linked to this study.
- Other trials for Myelodysplastic SyndromesStudies 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
- Other
- Time perspective
- Prospective
- Enrolment
- 260 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital Freiburg
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Charlotte Niemeyer, MD, University Hospital Freiburg
- Investigators
- Charlotte M. Niemeyer, M.D., Principal investigator, University of Freiburg
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00662090
- Sponsor's protocol ID
- EWOG MDS 2006
- Acronym
- EWOG MDS 2006
- Status last verified
- Apr 2026
- First submitted
- 17 Apr 2008
- Last updated
- 4 May 2026
- Results posted
- No
- Data monitoring committee
- No
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 40554414Erlacher 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 37584291Jorgensen 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 34893945Aalbers 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 25425683Aalbers 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 24786393Yoshimi 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 24162791Gohring 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
Study at a glance
From the registry record, last updated by the sponsor on 4 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Prospective Non-randomized Multi-center Study for Epidemiology and Characterization of Myelodysplastic Syndromes (MDS) and Juvenile Myelomonocytic Leucemia (JMML) in Childhood
- ClinicalTrials.gov ID
- NCT00662090
- Acronym / sponsor ID
- EWOG MDS 2006 / EWOG MDS 2006
- Keywords
- MDS, JMML, EWOG-MDS, Myelodysplastic Syndromes (MDS), Juvenile Myelomonocytic Leukemia (JMML)
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 260 participants (estimated)
- Lead sponsor
- University Hospital FreiburgUniversity, hospital or other
- Study start
- Apr 2010 (actual)
- Primary completion
- Dec 2027 (estimated)
- Study completion
- Dec 2027 (estimated)
- First posted
- 21 Apr 2008 (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.
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
Study design
- Observational model
- Other
- Time perspective
- Prospective
Who may qualify
- Ages
- Up to 17 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- MDS and JMML diagnosted
Key inclusion criteria (4 listed)
- Written informed consent 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
Key exclusion criteria (3 listed)
- Denied informed consent 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).
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
To evaluate the frequency of the different subtypes of MDS in childhood and adolescence by a standardized diagnostic approach
Time frame: 5 years
To evaluate the frequency of cytogenetic and molecular abnormalities
Time frame: 5 years
2 secondary outcomes
To assess survival for children and adolescents with MDS and JMML
Time frame: 5 years
To evaluate relapse rate, morbidity and mortality in children with MDS and JMML treated by HSCT
Time frame: 5 years
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 4 May 2026.
- Derived from this study: PubMed 40554414Drexler 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.
- Derived from this study: PubMed 37584291Erlacher 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.
- Derived from this study: PubMed 34893945Jorgensen 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.
- Derived from this study: PubMed 25425683Aalbers 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.
- Derived from this study: PubMed 24786393Aalbers 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.
- Derived from this study: PubMed 24162791Yoshimi 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.
- Derived from this study: PubMed 20802024Gohring 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.
- Homepage of the EWOG-MDS-Study GroupLink provided by the sponsor.
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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.
Charlotte M. Niemeyer, M.D. principal investigator
University of Freiburg
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Myelodysplastic Syndromes and Juvenile Myelomonocytic Leukemia, run by University Hospital Freiburg at 1 site in Germany.
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 4 inclusion and 3 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 4 May 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 Germany. 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?
Contact Charlotte M. Niemeyer, M.D. (49-761-270 ext. 45060, charlotte.niemeyer@uniklinik-freiburg.de), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
To evaluate the frequency of the different subtypes of MDS in childhood and adolescence by a standardized diagnostic approach (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 NCT00662090, which also lists 7 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 4 May 2026.