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Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment

The recruitment status of this study is unknown because the information has not been verified recently.
Verified December 2011 by University Hospital Freiburg.
Recruitment status was  Recruiting
Information provided by (Responsible Party):
Charlotte Niemeyer, MD, University Hospital Freiburg Identifier:
First received: July 10, 2007
Last updated: December 1, 2011
Last verified: December 2011

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.

Condition Intervention
Dyskeratosis Congenita
Fanconi Anemia
Myelodysplastic Syndromes
Nonmalignant Neoplasm
Pearson Marrow-pancreas Syndrome
Shwachman-diamond Syndrome
Genetic: polymerase chain reaction
Other: flow cytometry
Other: immunologic technique
Procedure: biopsy

Study Type: Observational
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

Resource links provided by NLM:

Further study details as provided by University Hospital Freiburg:

Primary Outcome Measures:
  • 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 ]

Secondary Outcome Measures:
  • 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 ]

Estimated Enrollment: 125
Study Start Date: January 2007
Detailed Description:



  • 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.


Ages Eligible for Study:   up to 17 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

All patients with MDS



  • Diagnosis of refractory cytopenia (RC) including any of the following:

    • Severe aplastic anemia (SAA)
    • Fanconi's anemia
    • Shwachman Diamond syndrome
    • Dyskeratosis congenita
    • Pearson syndrome
  • All RC patients included in the EWOG MDS 2006 protocol irrespective of therapy
  • Patients who have undergone hematopoietic stem cell transplantation (HSCT) may be enrolled on EWOG-MDS SCT RC RIC 06 or EWOG-MDS SCT MDS 06 protocol


  • Not specified


  • No prior immunosuppressive therapy for refractory cytopenia
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00499070

St. Anna Children's Hospital Recruiting
Vienna, Austria, A-1090
Contact: Monika Trebo, MD    43-140-1700      
Ghent University Recruiting
Ghent, Belgium, B-9000
Contact: Barbara De Moerloose, MD, PhD    32-9332-6417      
Czech Republic
University Hospital Motol Recruiting
Prague, Czech Republic, 150 06
Contact: Jan Stary, MD    420-2-2443-6401   
Arhus Universitetshospital - Skejby Recruiting
Aarhus, Denmark, 8200
Contact: Henrik Hasle, MD    45-8949-6716   
Universitaetskinderklinik - Universitaetsklinikum Freiburg Recruiting
Freiburg, Germany, D-79106
Contact: Charlotte Niemeyer, MD    49-761-270-4506   
Our Lady´s Hospital for Sick Children Recruiting
Dublin, Ireland, 12
Contact: Owen Smith, MD   
Fondazione I.R.C.C.S. Policlinico San Matteo Recruiting
Pavia, Italy, 27100
Contact: Marco Zecca, MD    39-38-250-2916   
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   
University Children's Hospital Recruiting
Zurich, Switzerland, CH-8032
Contact: Eva Bergstrasser, MD    41-44-266-7723      
Sponsors and Collaborators
University Hospital Freiburg
Study Chair: Marry M. Van Den Heuvel-Eibrink, MD, PhD Erasmus MC - Sophia Children's Hospital
  More Information

Additional Information:
No publications provided

Responsible Party: Charlotte Niemeyer, MD, MD Prof. Dr. med. Niemeyer, University Hospital Freiburg Identifier: NCT00499070     History of Changes
Other Study ID Numbers: CDR0000553058, EWOG-MDS-RC-06, EU-20733
Study First Received: July 10, 2007
Last Updated: December 1, 2011
Health Authority: Germany: Ethics Commission

Keywords provided by University Hospital Freiburg:
refractory cytopenia with multilineage dysplasia
aplastic anemia
Fanconi anemia
dyskeratosis congenita
Shwachman-Diamond syndrome
Pearson marrow-pancreas syndrome

Additional relevant MeSH terms:
Bone Marrow Diseases
Dyskeratosis Congenita
Exocrine Pancreatic Insufficiency
Fanconi Anemia
Fanconi Syndrome
Lipid Metabolism, Inborn Errors
Mitochondrial Diseases
Muscular Diseases
Myelodysplastic Syndromes
Anemia, Aplastic
Anemia, Hypoplastic, Congenital
Congenital Abnormalities
DNA Repair-Deficiency Disorders
Digestive System Diseases
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Hematologic Diseases
Kidney Diseases
Lipid Metabolism Disorders
Metabolic Diseases
Metabolism, Inborn Errors
Musculoskeletal Diseases
Nervous System Diseases
Neuromuscular Diseases processed this record on November 27, 2014