Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment
RATIONALE: Studying biopsy, bone marrow, and blood samples from patients with cytopenia that did not respond to treatment may help doctors learn more about the disease and plan the best treatment.
PURPOSE: This laboratory study is assessing immune function in young patients with cytopenia that did not respond to treatment.
Pearson Marrow-pancreas Syndrome
Genetic: polymerase chain reaction
Other: flow cytometry
Other: immunologic technique
|Study Design:||Observational Model: Cohort
Time Perspective: Prospective
|Official Title:||TCR Vbeta Repertoire and PNH Clones in Children With Refractory Cytopenia (RC). An Open Nonrandomised Multi-Center Prospective Study|
- Number of patients with TCR V beta oligoclonality at diagnosis [ Time Frame: 96 months ] [ Designated as safety issue: No ]
- Immunophenotype of patients with oligoclonal T-cell expansion [ Time Frame: 96 months ] [ Designated as safety issue: No ]
- Number of patients with glycophosphatidylinositol (GPI) deficient clones [ Time Frame: 96 months ] [ Designated as safety issue: No ]
- Number of patients with molecular response as compared to hematological response after IST [ Time Frame: 96 months ] [ Designated as safety issue: No ]
- Number of patients with HLA-DR15 antigen expression and molecular response as compared to number of patients with other HLA-DR antigens and molecular response [ Time Frame: 96 months ] [ Designated as safety issue: No ]
- Overall survival [ Time Frame: 96 months ] [ Designated as safety issue: No ]
- Failure-free survival [ Time Frame: 96 months ] [ Designated as safety issue: No ]
|Study Start Date:||January 2007|
- To evaluate the value of TCR V beta repertoire analysis for the determination of autoimmunity in refractory cytopenia (RC).
- To evaluate which immunophenotypic hematopoietic subclones are associated with oligoclonal T-cell expansion in RC.
- To evaluate the presence of paroxysmal nocturnal hemoglobinuria (PNH) clones in RC.
- To compare the molecular response with the hematologic response in patients with RC after treatment with immunosuppressive therapy (IST).
- To compare the molecular response with human leukocyte histocompatability antigen (HLA) expression in patients with RC after treatment with IST.
OUTLINE: This is an open-label, multicenter, nonrandomized, prospective study.
Patients undergo biopsy, bone marrow, and blood sample collection periodically for immunological studies. Samples are analyzed for TCR V beta repertoire and paroxysmal nocturnal hemoglobinuria (PNH) clone analysis via PCR heteroduplex analysis and immunophenotyping of CD14, CD16 , CD55, CD59, and CD24 expression via flow cytometry.
|St. Anna Children's Hospital||Recruiting|
|Vienna, Austria, A-1090|
|Contact: Monika Trebo, MD 43-140-1700|
|Ghent, Belgium, B-9000|
|Contact: Barbara De Moerloose, MD, PhD 32-9332-6417|
|University Hospital Motol||Recruiting|
|Prague, Czech Republic, 150 06|
|Contact: Jan Stary, MD 420-2-2443-6401 email@example.com|
|Arhus Universitetshospital - Skejby||Recruiting|
|Aarhus, Denmark, 8200|
|Contact: Henrik Hasle, MD 45-8949-6716 firstname.lastname@example.org|
|Universitaetskinderklinik - Universitaetsklinikum Freiburg||Recruiting|
|Freiburg, Germany, D-79106|
|Contact: Charlotte Niemeyer, MD 49-761-270-4506 email@example.com|
|Our Lady´s Hospital for Sick Children||Recruiting|
|Dublin, Ireland, 12|
|Contact: Owen Smith, MD firstname.lastname@example.org|
|Fondazione I.R.C.C.S. Policlinico San Matteo||Recruiting|
|Pavia, Italy, 27100|
|Contact: Marco Zecca, MD 39-38-250-2916 email@example.com|
|Erasmus MC - Sophia Children's Hospital||Recruiting|
|Rotterdam, Netherlands, 3015 GJ|
|Contact: Marry M. Van Den Heuvel-Eibrink, MD, PhD 31-104-636-691|
|Hospital Sant Joan de Deu||Recruiting|
|Barcelona, Spain, 08950|
|Contact: Albert Catala, MD firstname.lastname@example.org|
|University Children's Hospital||Recruiting|
|Zurich, Switzerland, CH-8032|
|Contact: Eva Bergstrasser, MD 41-44-266-7723|
|Study Chair:||Marry M. Van Den Heuvel-Eibrink, MD, PhD||Erasmus MC - Sophia Children's Hospital|