Clinical trial NCT00662090: Study for Epidemiology and Characterization of Myelodysplastic Syndromes (MDS) and Juvenile Myelomonocytic Leucemia (JMML) in Childhood
Official title: Prospective Non-randomized Multi-center Study for Epidemiology and Characterization of Myelodysplastic Syndromes (MDS) and Juvenile Myelomonocytic Leucemia (JMML) in Childhood
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Myelodysplastic Syndromes
Juvenile Myelomonocytic Leukemia
Keywords: MDS
JMML
EWOG-MDS
Myelodysplastic Syndromes (MDS)
Juvenile Myelomonocytic Leukemia (JMML)
Lead sponsor: University Hospital Freiburg
Sponsor class: OTHER
First posted: 2008-04-21
Enrollment: 260
Sex: ALL
Maximum age (years): 215
Standard ages: CHILD
Accepts healthy volunteers: no
Observational model: OTHER
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: MDS and JMML diagnosted

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


Eligibility criteria: Inclusion Criteria:

* 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

Exclusion Criteria:

* 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).

Primary outcomes:
measure: To evaluate the frequency of the different subtypes of MDS in childhood and adolescence by a standardized diagnostic approach
timeFrame: 5 years
measure: To evaluate the frequency of cytogenetic and molecular abnormalities
timeFrame: 5 years
Secondary outcomes:
measure: To assess survival for children and adolescents with MDS and JMML
timeFrame: 5 years
measure: To evaluate relapse rate, morbidity and mortality in children with MDS and JMML treated by HSCT
timeFrame: 5 years
Other outcomes:
Locations:
city: Freiburg
country: Germany
facility: University Hospital of Freiburg
state: Baden-Württemberg
Study officials:
affiliation: University of Freiburg
name: Charlotte M. Niemeyer, M.D.
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.
citation: 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.
citation: 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.
citation: 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.
citation: 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.