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Completed

NCT Number: NCT00499070

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.

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Key information

Conditions

Dyskeratosis Congenita Anemia Anemia, Aplastic Anemia, Hypoplastic, Congenital Bone Marrow Diseases Bone Marrow Failure Disorders Congenital Abnormalities Congenital Bone Marrow Failure Syndromes Congenital, Hereditary, and Neonatal Diseases and Abnormalities DNA Repair-Deficiency Disorders Digestive System Diseases Exocrine Pancreatic Insufficiency Fanconi Anemia Genetic Diseases, Inborn Genetic Diseases, X-Linked Hematologic Diseases Hemic and Lymphatic Diseases Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipomatosis Metabolic Diseases Myelodysplastic Syndromes Nutritional and Metabolic Diseases Pancreatic Diseases Pearson Marrow-pancreas Syndrome Shwachman-Diamond Syndrome Skin Abnormalities Skin Diseases Skin Diseases, Genetic Skin and Connective Tissue Diseases VLCAD deficiency

Age range

Up to 17 year

Sex eligibility

All sexes

Study type

Observational

Primary location

St. Anna Children's Hospital, Vienna, Austria

Loading trial locations.

About this study

OBJECTIVES:

Primary

  • 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.

Secondary

  • 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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

DISEASE CHARACTERISTICS:

  • 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

PATIENT CHARACTERISTICS:

  • Not specified

PRIOR CONCURRENT THERAPY:

  • No prior immunosuppressive therapy for refractory cytopenia

Treatment and study plan

polymerase chain reaction

Genetic

flow cytometry

Other

For analyzing GPI deficient clones full blood will be analyzed by phenotyping using flowcytometry. For that purpose CD14, CD16 and CD24 expression will be evaluated in CD45 positive cells. Erythroid cells will be evaluated for CD55 and CD59 expression searching for clear populations with a lack of GPI-linked molecules. In addition, immunophenotyping using flowcytometry will be performed to evaluate which differentiation stages of the major hematopoietic lineages in BM and PB are associated with TCRVβ repertoire skewing. Comparison between BM and PB will identify which is the optimal compartment to analyze the responsible hematopoietic clones.

immunologic technique

Other

Biopsy

Procedure

Primary outcomes

  1. Number of patients with TCR V beta oligoclonality at diagnosis

    Time frame: 96 months

  2. Immunophenotype of patients with oligoclonal T-cell expansion

    Time frame: 96 months

  3. Number of patients with glycophosphatidylinositol (GPI) deficient clones

    Time frame: 96 months

Secondary outcomes

  1. Number of patients with molecular response as compared to hematological response after IST

    Time frame: 96 months

  2. 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

  3. Overall survival

    Time frame: 96 months

  4. Failure-free survival

    Time frame: 96 months

Sponsors and collaborators

Lead sponsor

University Hospital Freiburg

Other

Registry information

Official study title

TCR Vbeta Repertoire and PNH Clones in Children With Refractory Cytopenia (RC). An Open Nonrandomised Multi-Center Prospective Study

Important dates

Study start
2007
Primary completion
2012
Study completion
2012
First posted
Jul 11, 2007
Registry last updated
Jan 16, 2015

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

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This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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