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

NCT00662090 | Recruiting

• 1 other identifier: EWOG MDS 2006
• Study Type: observational
• Target: 260
• Locations: 1 country
• Sites: 1

Brief 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

Conditions

Myelodysplastic Syndromes; Juvenile Myelomonocytic Leukemia

Keywords

MDS; JMML; EWOG-MDS; Myelodysplastic Syndromes (MDS); Juvenile Myelomonocytic Leukemia (JMML)

Outcome Measures

Primary Outcomes (2)

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

  5 years

• To evaluate the frequency of cytogenetic and molecular abnormalities

  5 years

Secondary Outcomes (2)

• To assess survival for children and adolescents with MDS and JMML

  5 years

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

  5 years

Eligibility Criteria

• Age: Up to 17 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

MDS and JMML diagnosted

You may qualify if:

• 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

You may not qualify if:

• 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).

Sponsors & Collaborators

• University Hospital Freiburg: lead

Study Sites (1)

University Hospital of Freiburg

Freiburg im Breisgau, Baden-Wurttemberg, 79106, Germany

RECRUITING

Related Publications (7)

• 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.

  PMID: 40554414 DERIVED

• 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.

  PMID: 37584291 DERIVED

• 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.

  PMID: 34893945 DERIVED

• 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.

  PMID: 25425683 DERIVED

• 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.

  PMID: 24786393 DERIVED

• 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.

  PMID: 24162791 DERIVED

• 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.

  PMID: 20802024 DERIVED

Related Links

• Homepage of the EWOG-MDS-Study Group

Biospecimen

Retention: SAMPLES WITH DNA

At diagnosis, prior to HSCT and at relapse material form peripheral blood and bone marrow will be retrieved and stored for research purposes. If there are other diagnostic bone marrow examinations at other time points (prior to HSCT), the material will be handled the same way. The following material will be retrieved: * 8 smears from PB * 8 smears from BM * at least 5 ml of heparinized PB * at least 5 ml of heparinized BM

MeSH Terms

Conditions

Myelodysplastic Syndromes; Leukemia, Myelomonocytic, Juvenile

Condition Hierarchy (Ancestors)

Bone Marrow Diseases; Hematologic Diseases; Hemic and Lymphatic Diseases; Leukemia, Myeloid; Leukemia; Neoplasms by Histologic Type; Neoplasms; Myelodysplastic-Myeloproliferative Diseases

Study Officials

• Charlotte M. Niemeyer, M.D.

  University of Freiburg

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Charlotte M. Niemeyer, M.D.

CONTACT

49-761-270; charlotte.niemeyer@uniklinik-freiburg.de

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Prof. Dr. Charlotte Niemeyer, MD

Study Record Dates

• First Submitted: April 17, 2008
• First Posted: April 21, 2008
• Study Start: April 1, 2010
• Primary Completion (Estimated): December 1, 2027
• Study Completion (Estimated): December 1, 2027
• Last Updated: May 4, 2026

Record last verified: 2026-04

Locations

DE (1)