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

CompletedOBSERVATIONAL
Enrollment

119

Participants

Timeline

Start Date

January 31, 2007

Primary Completion Date

August 31, 2012

Study Completion Date

August 31, 2012

Conditions
Dyskeratosis CongenitaFanconi AnemiaMyelodysplastic SyndromesPearson Marrow-pancreas SyndromeShwachman-diamond Syndrome
Interventions
GENETIC

polymerase chain reaction

OTHER

flow cytometry

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.

OTHER

immunologic technique

PROCEDURE

biopsy

Trial Locations (10)

12

Our Lady´s Hospital for Sick Children, Dublin

8200

Arhus Universitetshospital - Skejby, Aarhus

27100

Fondazione I.R.C.C.S. Policlinico San Matteo, Pavia

A-1090

St. Anna Children's Hospital, Vienna

B-9000

Ghent University, Ghent

150 06

University Hospital Motol, Prague

D-79106

Universitaetskinderklinik - Universitaetsklinikum Freiburg, Freiburg im Breisgau

3015 GJ

Erasmus MC - Sophia Children's Hospital, Rotterdam

08950

Hospital Sant Joan de Deu, Barcelona

CH-8032

University Children's Hospital, Zurich

All Listed Sponsors
lead

University Hospital Freiburg

OTHER

NCT00499070 - Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment | Biotech Hunter | Biotech Hunter