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Note: This record shows only 22 elements of the WHO Trial Registration Data Set. To view changes that have been made to the source record, or for additional information about this trial, click on the URL below to go to the source record in the primary register.

Register:	German Clinical Trials Register
Last refreshed on:	8 April 2024
Main ID:	DRKS00004592
Date of registration:	25/01/2013
Prospective Registration:	No
Primary sponsor:	Universitätsklinikum Freiburg Centrum für Chronische Immundefizienz (CCI)
Public title:	Patients with mutations in the XIAP/BIRC4 gene
Scientific title:	Patients with mutations in the XIAP/BIRC4 gene - XIAP
Date of first enrolment:	21/05/2012
Target sample size:	30
Recruitment status:	Complete
URL:	http://drks.de/search/en/trial/DRKS00004592
Study type:	observational
Study design:	Allocation: ; Masking: ; Control: ; Assignment: ; Study design purpose: diagnostic
Phase:

Countries of recruitment
Germany

Contacts

Name:	Casten Speckmann
Address:	Breisacher Str. 117c 79106 Freiburg Germany
Telephone:	+49 761 270 43090
Email:	carsten.speckmann@uniklinik-freiburg.de
Affiliation:	Universitätsklinikum Freiburg Centrum für Chronische Immundefizienz (CCI)

Name:	Casten Speckmann
Address:	Breisacher Str. 117c 79106 Freiburg Germany
Telephone:	+49 761 270 43090
Email:	carsten.speckmann@uniklinik-freiburg.de
Affiliation:	Universitätsklinikum Freiburg Centrum für Chronische Immundefizienz (CCI)

Key inclusion & exclusion criteria

Inclusion criteria: - patients with XLP-2 disease for whom a mutation in gene BIRC4/XIAP was diagnosed
- signed consent from the patient/parents for underaged patients

Exclusion criteria: - lack of signed consent from the patient/parents for underaged patients

Age minimum: None
Age maximum: None
Gender: All

Health Condition(s) or Problem(s) studied

D82.3

Immunodeficiency following hereditary defective response to Epstein-Barr virus

K50.9

Crohn disease, unspecified

D82.3
K50.9
D80.0

Hereditary hypogammaglobulinaemia

D80.0

Intervention(s)

Group 1: Patients with XLP, M. Crohn, EBV-infection, splenomegaly, hypogammaglobulinaemia and/or other symptoms for which a mutation in the gene BIRC4/XIAP was diagnosed. Enrolled patients will receive a venipuncture. Isolated patients cells are then flow cytometrically and genetically analyzed. Moreover, we establish cell lines to perform signalling pathway studies.

Primary Outcome(s)

Influence of different mutations in XIAP/BIRC4 on intracellular signalling

Secondary Outcome(s)

Not applicable

Secondary ID(s)

Source(s) of Monetary Support

Universitätsklinikum Freiburg Centrum für Chronische Immundefizienz (CCI)

Secondary Sponsor(s)

Ethics review

Status: Approved
Approval date: 13/04/2012
Contact:

ekfr.mpg@uniklinik-freiburg.de

Ethik-Kommission der Albert-Ludwigs-Universität Freiburg

+49-761-27072600

ekfr.mpg@uniklinik-freiburg.de

Results

Results available:
Date Posted:
Date Completed:	15/01/2018
URL:	http://drks.de/search/en/trial/DRKS00004592#studyResults

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