Trial document
DRKS00017386
Trial Description
Title
Primary Immunodeficiencies impacting regulatory T cell biology
Trial Acronym
Treg-PID
URL of the Trial
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Brief Summary in Lay Language
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Brief Summary in Scientific Language
Primary immunodeficiency (PID) is a heterogeneous group of diseases, in which patients suffer from e.g. susceptibility to infections or autoimmune diseases due to genetic defects in genes pivotal in our immune system. Autoimmune PolyEndocrinopathy - Candidiasis - Ectodermal Dysplasia (APECED), also known as Autoimmune Polyendocrine Syndrome Type 1 (APS-1) is a PID caused by a genetic defect in the transcription factor AIRE (autoimmune regulator). AIRE is required for the ectopic expression of autoantigens in the thymus, and it had been postulated that AIRE is required for the presentation of agonists and thus the development of CD4+ regulatory T (Treg) cells. CD4+ Treg cells have been of scientific interest for decades, particularly for their role in self-tolerance. Surprisingly, AIRE-deficient patients do possess Treg cells, however in reduced numbers. It had been hypothesized that immunopathologies in AIRE-deficient patients arise from dysfunction of remaining Treg cells. However, our published work clearly demonstrated the existence of multiple distinct Treg subsets within the pool of Treg cells. Thus, we hypothesize that one of the pathomechanisms in AIRE-deficient patients is lack of a unique functional Treg subset. Thus, the goal of our study is to perform in depth characterization of the CD4 Treg compartment in patients with Treg defects, such as AIRE-deficiency. A better understanding of the mechanisms underlying Treg primary immunodeficiency (Treg-PID) might enable the development of novel therapies.
Do you plan to share individual participant data with other researchers?
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Description IPD sharing plan:
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Organizational Data
- DRKS00017386
- 2019/06/05
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- yes
- Approved
- 1/19, Ethik-Kommission der Albert-Ludwigs-Universität Freiburg
Secondary IDs
- U1111-1233-8963
Health Condition or Problem studied
- E31.0 - Autoimmune polyglandular failure
- D84 - Other immunodeficiencies
- D82 - Immunodeficiency associated with other major defects
- D89 - Other disorders involving the immune mechanism, not elsewhere classified
Interventions/Observational Groups
- characterization of immune cells from patients with primary immunodeficiencies, e.g. Mutations in AIRE gene. We will perform a series of tests, including single-cell RNA-Seq and functional tests. Based on these results, additional diagnostic tests may be required.
- Characterization of immune cells from healthy controls. We will perform a series of tests, including single-cell RNA-Seq and functional tests. Based on these results, additional diagnostic tests may be required.
Characteristics
- Non-interventional
- Other
- Other
- Open (masking not used)
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- Other
- Diagnostic
- Parallel
- N/A
- N/A
Primary Outcome
Detailed analysis of Immunsystem of patients suffering from Treg-PID
Secondary Outcome
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Countries of Recruitment
- Germany
- United Kingdom
- France
- Switzerland
- Austria
- Italy
- Sweden
- Norway
- Finland
- United States
Locations of Recruitment
- Medical Center
Recruitment
- Actual
- 2019/05/24
- 50
- Monocenter trial
- International
Inclusion Criteria
- Both, male and female
- 1 Years
- 65 Years
Additional Inclusion Criteria
1.Chronic benign lymphoproliferation (i.e. splenomegaly +/- lymphadenopathy at 2 sites without infectious or malignant cause)
AND
2.Autoimmune disease (i.e. AI cytopenia OR inflammatory bowel disease OR CNS inflammatory disease OR interstitial lung disease)
OR
one of the two above manifestions
AND
3.At least one factor indicating a primary immunodeficiency (i.e. infection susceptibility OR additional autoimmune or inflammatory manifestations OR hypogammaglobulinemia OR aberrant immunophenotype OR positive family history OR consanguinity)
Exclusion Criteria
No written informed consent of patient or parents (in case of minors) has been obtained
Addresses
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- Universitätsklinikum Freiburg
- Hugstetter Strasse 49
- 79095 Freiburg
- Germany
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- http://www.uniklinik-freiburg.de
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- Zentrum für Kinder- und Jugendmedizin
- Ms. Dr Manching Ku
- Mathildenstrasse 1
- 79106 Freiburg
- Germany
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- manching.ku at uniklinik-freiburg.de
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- Zentrum für Kinder- und Jugendmedizin
- Mr. Dr. Oktay Kirak
- Mathildenstrasse 1
- 79106 Freiburg
- Germany
end of 1:1-Block address public-contactstart of 1:1-Block address contact public-contact- 0049-761-270 43000
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- oktay.kirak at uniklinik-freiburg.de
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Sources of Monetary or Material Support
-
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- Universitätsklinikum Freiburg
- Hugstetter Strasse 49
- 79095 Freiburg
- Germany
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- http://www.uniklinik-freiburg.de
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- Deutsche Forschungsgemeinschaft
- Kennedyallee 40
- 53175 Bonn
- Germany
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- http://www.dfg.de
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Status
- Recruiting ongoing
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Trial Publications, Results and other Documents
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