Trial document

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DRKS-ID: DRKS00017386

Trial Description

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Title

Primary Immunodeficiencies impacting regulatory T cell biology

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Trial Acronym

Treg-PID

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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.

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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

DRKS-ID: DRKS00017386
Date of Registration in DRKS: 2019/06/05
Date of Registration in Partner Registry or other Primary Registry: [---]*
Investigator Sponsored/Initiated Trial (IST/IIT): yes
Ethics Approval/Approval of the Ethics Committee: Approved
(leading) Ethics Committee No.: 1/19, Ethik-Kommission der Albert-Ludwigs-Universität Freiburg

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Secondary IDs

Universal Trial Number (UTN): U1111-1233-8963

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Health Condition or Problem studied

ICD10: E31.0 - Autoimmune polyglandular failure
ICD10: D84 - Other immunodeficiencies
ICD10: D82 - Immunodeficiency associated with other major defects
ICD10: D89 - Other disorders involving the immune mechanism, not elsewhere classified

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Interventions/Observational Groups

Arm 1: 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.
Arm 2: 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.

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Characteristics

Study Type: Non-interventional
Study Type Non-Interventional: Other
Allocation: Other
Blinding: Open (masking not used)
Who is blinded: [---]*
Control: Other
Purpose: Diagnostic
Assignment: Parallel
Phase: N/A
Off-label Drug use: N/A

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Primary Outcome

Detailed analysis of Immunsystem of patients suffering from Treg-PID

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Secondary Outcome

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Countries of Recruitment

DE: Germany
UK: United Kingdom
FR: France
CH: Switzerland
AT: Austria
IT: Italy
SE: Sweden
NO: Norway
FI: Finland
US: United States

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Locations of Recruitment

Medical Center Zentrum für Kinder- und Jugendmedizin, Freiburg im Breisgau

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Recruitment

Planned/Actual: Actual
(Anticipated or Actual) Date of First Enrollment: 2019/05/24
Target Sample Size: 50
Monocenter/Multicenter trial: Monocenter trial
National/International: International

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Inclusion Criteria

Gender: Both, male and female
Minimum Age: 1 Years
Maximum Age: 65 Years

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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)

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Exclusion Criteria

No written informed consent of patient or parents (in case of minors) has been obtained

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Addresses

Primary Sponsor
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- Universitätsklinikum Freiburg
- Hugstetter Strasse 49
- 79095 Freiburg
- Germany
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- Telephone: [---]*
- Fax: [---]*
- E-mail: [---]*
- URL: http://www.uniklinik-freiburg.de
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Contact for Scientific Queries
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- Zentrum für Kinder- und Jugendmedizin
- Ms. Dr Manching Ku
- Mathildenstrasse 1
- 79106 Freiburg
- Germany
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- Telephone: 0049-761-27044671
- Fax: [---]*
- E-mail: manching.ku at uniklinik-freiburg.de
- URL: [---]*
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Contact for Public Queries
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- Zentrum für Kinder- und Jugendmedizin
- Mr. Dr. Oktay Kirak
- Mathildenstrasse 1
- 79106 Freiburg
- Germany
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- Telephone: 0049-761-270 43000
- Fax: [---]*
- E-mail: oktay.kirak at uniklinik-freiburg.de
- URL: [---]*
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Sources of Monetary or Material Support

Institutional budget, no external funding (budget of sponsor/PI)
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- Universitätsklinikum Freiburg
- Hugstetter Strasse 49
- 79095 Freiburg
- Germany
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- Telephone: [---]*
- Fax: [---]*
- E-mail: [---]*
- URL: http://www.uniklinik-freiburg.de
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Public funding institutions financed by tax money/Government funding body (German Research Foundation (DFG), Federal Ministry of Education and Research (BMBF), etc.)
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- Deutsche Forschungsgemeinschaft
- Kennedyallee 40
- 53175 Bonn
- Germany
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- Telephone: [---]*
- Fax: [---]*
- E-mail: [---]*
- URL: http://www.dfg.de
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Status

Recruitment Status: Recruiting ongoing
Study Closing (LPLV): [---]*

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Trial Publications, Results and other Documents

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