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

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

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

DRKS

Registry ID

DRKS00000610

Enrollment

120

Registered

2011-08-25

Start date

2011-08-29

Completion date

Unknown

Last updated

2025-04-07

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

D61.9

Interventions

Group 1: Within the framework of this study we will determine the length of so called telomeres. Telomeres are repetitive DNA structures at the ends of chromosomes stabilizing the human genome. The lo

Eligibility

Sex/Gender

All

Age

6 Months to 17 Years

Inclusion criteria

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

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)

Design outcomes

Primary

Measure	Time frame
•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 •To measure telomere length •To study the frequency of clinically manifest EBV-related lymphoproliferation •To analyze the epidemiology of SAA in children and adolescents	—

Secondary

Measure	Time frame
• To explore the presence and frequency of PNH clones • To detect T cell oligoclonality in BM derived T lymphocytes • To investigate the association of immunophenotypic subclones with oligoclonal T cellexpansion in SAA • To assess the PBMC activation status and capacity of in vitro cellular response to ATG • 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)	—

Measure

Time frame

• To explore the presence and frequency of PNH clones • To detect T cell oligoclonality in BM derived T lymphocytes • To investigate the association of immunophenotypic subclones with oligoclonal T cellexpansion in SAA • To assess the PBMC activation status and capacity of in vitro cellular response to ATG • 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)

—

Countries

Austria, Belgium, Czechia, Denmark, Finland, Germany, Ireland, Italy, Netherlands, Norway, Poland, Spain, Sweden, Switzerland

Contacts

Public ContactBrigitte Strahm

Zentrum für Kinder- und Jugendmedizin des Universitätsklinikums Freiburg, Klinik IV, Pädiatrische Hämatologie/Onkologie

brigitte.strahm@uniklinik-freiburg.de0761-270-46250

Outcome results

None listed

Source: DRKS (via WHO ICTRP) · Data processed: Feb 4, 2026