EWOG-SAA 2010Genetic and Immunological Characterization of Acquired Severe Aplastic Anemia (SAA) in Children and Adolescents

Suspended

Conditions: D61.9
Aplastic anaemia, unspecified

Registration Number: DRKS00000610

Lead Sponsor: niversitätsklinikum Freiburg

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Suspended

Sex: All

Target Recruitment: 120

Inclusion Criteria

•Written informed consent by the caretakers and whenever possible the patient’s assent.
•Confirmed diagnosis of SAA (Appendix 3)
•Age: 6 months to less than 18 years

Exclusion Criteria

•Previous therapy with IST for SAA
•Inherited bone marrow failure (IBMF) disorder (e.g. Fanconi anemia, dyskeratosis congenita, Shwachman-Diamond syndrome, Diamond-Blackfan anemia)
•Chromosomal aberration detected by metaphase cytogenetics and/ or FISH (for chromosome 7 and 8), except trisomy of chromosome 8
•Diagnosis of refractory cytopenia (RC)

Study & Design

Study Type: observational

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
•To detect specific genomic lesions/ genotypes by whole genome SNP-arrays and thus to identify patients at high risk for clonal evolution and/or putative non response <br>•To measure telomere length<br>•To study the frequency of clinically manifest EBV-related lymphoproliferation<br>•To analyze the epidemiology of SAA in children and adolescents<br>

Secondary Outcome Measures

Name	Time	Method
•To explore the presence and frequency of PNH clones<br>•To detect T cell oligoclonality in BM derived T lymphocytes<br>•To investigate the association of immunophenotypic subclones with oligoclonal T cellexpansion in SAA<br>•To assess the PBMC activation status and capacity of in vitro cellular response to ATG <br>•To compare hematologic response and clinical outcome following IST with immunological and genetic parameters (genomic lesions, telomere length, presence of PNH clones, T cell oligoclonality, in vitro cellular response to ATG)<br>