Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment - Full Text View

Purpose

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 Pearson Marrow-Pancreas Syndrome Precancerous/Nonmalignant Condition Shwachman-Diamond Syndrome	Procedure: biopsy Procedure: flow cytometry Procedure: immunologic technique Procedure: polymerase chain reaction

Genetics Home Reference related topics:

L1 syndrome Shwachman-Diamond syndrome

MedlinePlus related topics:

Anemia

ChemIDplus related topics:

Pancrelipase Ultrase

U.S. FDA Resources

Study Type:	Observational

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

Further study details as provided by National Cancer Institute (NCI):

Primary Outcome Measures:

Number of patients with TCR V beta oligoclonality at diagnosis
Immunophenotype of patients with oligoclonal T-cell expansion
Number of patients with glycophosphatidylinositol (GPI) deficient clones

Secondary Outcome Measures:

Number of patients with molecular response as compared to hematological response after IST
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
Overall survival
Failure-free survival

Estimated Enrollment:	125
Study Start Date:	January 2007

Detailed Description:

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.

Eligibility

Ages Eligible for Study:	up to 17 Years
Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No

Criteria

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

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00499070

Locations


Austria
	St. Anna Children's Hospital	Recruiting
	Vienna, Austria, A-1090
	Contact: Monika Trebo, MD 43-140-1700

Belgium
	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 jan.stary@lfmotol.cuni.cz

Denmark
	Arhus Universitetshospital - Skejby	Recruiting
	Aarhus, Denmark, 8200
	Contact: Henrik Hasle, MD 45-8949-6716 hasle@dadlnet.dk

Germany
	Universitaetskinderklinik - Universitaetsklinikum Freiburg	Recruiting
	Freiburg, Germany, D-79106
	Contact: Charlotte Niemeyer, MD 49-761-270-4506 charlotte.niemeyer@uniklinik-freiburg.de

Italy
	Fondazione I.R.C.C.S. Policlinico San Matteo	Recruiting
	Pavia, Italy, 27100
	Contact: Marco Zecca, MD 39-38-250-2916 m.zecca@smatteo.pv.it

Netherlands
	Erasmus MC - Sophia Children's Hospital	Recruiting
	Rotterdam, Netherlands, 3015 GJ
	Contact: Marry M. Van Den Heuvel-Eibrink, MD, PhD 31-104-636-691

Poland
	Wroclaw Medical University	Recruiting
	Wroclaw, Poland, 50-345
	Contact: Dorota Wojcik, MD, PhD 48-71-733-1900

Switzerland
	University Children's Hospital	Recruiting
	Zurich, Switzerland, CH-8032
	Contact: Eva Bergstrasser, MD 41-44-266-7723

Sponsors and Collaborators

European Working Group of MDS in Childhood

Investigators


Study Chair:	Marry M. Van Den Heuvel-Eibrink, MD, PhD	Erasmus MC - Sophia Children's Hospital

More Information

Clinical trial summary from the National Cancer Institute's PDQ® database This link exits the ClinicalTrials.gov site

Study ID Numbers:	CDR0000553058, EWOG-MDS-RC-06, EU-20733
First Received:	July 10, 2007
Last Updated:	August 27, 2008
ClinicalTrials.gov Identifier:	NCT00499070
Health Authority:	Unspecified

Keywords provided by National Cancer Institute (NCI):

refractory cytopenia with multilineage dysplasia

aplastic anemia

Fanconi anemia

dyskeratosis congenita

Shwachman-Diamond syndrome

Pearson marrow-pancreas syndrome

Study placed in the following topic categories:

Precancerous Conditions

Shwachman-Diamond syndrome

Pancrelipase

Preleukemia

Dyskeratosis congenita

Fanconi's anemia

Dyskeratosis Congenita

Anemia, Aplastic

Genetic Diseases, X-Linked

Congenital Abnormalities

Skin Diseases, Genetic

Myelodysplastic syndromes

Metabolic Diseases

Skin Diseases

Hematologic Diseases

Fanconi Anemia

Myelodysplastic Syndromes

Myelodysplasia

Skin Abnormalities

Anemia

Pearson's marrow-pancreas syndrome

Shwachman syndrome

Genetic Diseases, Inborn

Bone Marrow Diseases

Aplastic anemia

Metabolic disorder

Additional relevant MeSH terms:

Neoplasms

Pathologic Processes

Disease

Anemia, Hypoplastic, Congenital

Syndrome

DNA Repair-Deficiency Disorders

ClinicalTrials.gov processed this record on October 06, 2008

Sponsored by:	European Working Group of MDS in Childhood
Information provided by:	National Cancer Institute (NCI)
ClinicalTrials.gov Identifier:	NCT00499070