Trial document




drksid header

  DRKS00017386

Trial Description

start of 1:1-Block title

Title

Primary Immunodeficiencies impacting regulatory T cell biology

end of 1:1-Block title
start of 1:1-Block acronym

Trial Acronym

Treg-PID

end of 1:1-Block acronym
start of 1:1-Block url

URL of the Trial

[---]*

end of 1:1-Block url
start of 1:1-Block public summary

Brief Summary in Lay Language

/

end of 1:1-Block public summary
start of 1:1-Block scientific synopsis

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.

end of 1:1-Block scientific synopsis
start of 1:1-Block organizational data

Organizational Data

  •   DRKS00017386
  •   2019/06/05
  •   [---]*
  •   yes
  •   Approved
  •   1/19, Ethik-Kommission der Albert-Ludwigs-Universität Freiburg
end of 1:1-Block organizational data
start of 1:n-Block secondary IDs

Secondary IDs

  •   U1111-1233-8963 
end of 1:n-Block secondary IDs
start of 1:N-Block indications

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
end of 1:N-Block indications
start of 1:N-Block interventions

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.
end of 1:N-Block interventions
start of 1:1-Block design

Characteristics

  •   Non-interventional
  •   Other
  •   Other
  •   Open (masking not used)
  •   [---]*
  •   Other
  •   Diagnostic
  •   Parallel
  •   N/A
  •   N/A
end of 1:1-Block design
start of 1:1-Block primary endpoint

Primary Outcome

Detailed analysis of Immunsystem of patients suffering from Treg-PID

end of 1:1-Block primary endpoint
start of 1:1-Block secondary endpoint

Secondary Outcome

/

end of 1:1-Block secondary endpoint
start of 1:n-Block recruitment countries

Countries of Recruitment

  •   Germany
  •   United Kingdom
  •   France
  •   Switzerland
  •   Austria
  •   Italy
  •   Sweden
  •   Norway
  •   Finland
  •   United States
end of 1:n-Block recruitment countries
start of 1:n-Block recruitment locations

Locations of Recruitment

  • Medical Center 
end of 1:n-Block recruitment locations
start of 1:1-Block recruitment

Recruitment

  •   Actual
  •   2019/05/24
  •   50
  •   Monocenter trial
  •   International
end of 1:1-Block recruitment
start of 1:1-Block inclusion criteria

Inclusion Criteria

  •   Both, male and female
  •   1   Years
  •   65   Years
end of 1:1-Block inclusion criteria
start of 1:1-Block inclusion criteria add

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)

end of 1:1-Block inclusion criteria add
start of 1:1-Block exclusion criteria

Exclusion Criteria

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

end of 1:1-Block exclusion criteria
start of 1:n-Block addresses

Addresses

  • start of 1:1-Block address primary-sponsor
    • Universitätsklinikum Freiburg
    • Hugstetter Strasse 49
    • 79095  Freiburg
    • Germany
    end of 1:1-Block address primary-sponsor
    start of 1:1-Block address contact primary-sponsor
    end of 1:1-Block address contact primary-sponsor
  • start of 1:1-Block address scientific-contact
    • Zentrum für Kinder- und Jugendmedizin
    • Ms.  Dr  Manching  Ku 
    • Mathildenstrasse 1
    • 79106  Freiburg
    • Germany
    end of 1:1-Block address scientific-contact
    start of 1:1-Block address contact scientific-contact
    end of 1:1-Block address contact scientific-contact
  • start of 1:1-Block address public-contact
    • Zentrum für Kinder- und Jugendmedizin
    • Mr.  Dr.  Oktay  Kirak 
    • Mathildenstrasse 1
    • 79106  Freiburg
    • Germany
    end of 1:1-Block address public-contact
    start of 1:1-Block address contact public-contact
    end of 1:1-Block address contact public-contact
end of 1:n-Block addresses
start of 1:n-Block material support

Sources of Monetary or Material Support

  • start of 1:1-Block address materialSupport
    • Universitätsklinikum Freiburg
    • Hugstetter Strasse 49
    • 79095  Freiburg
    • Germany
    end of 1:1-Block address materialSupport
    start of 1:1-Block address contact materialSupport
    end of 1:1-Block address contact materialSupport
  • start of 1:1-Block address otherSupport
    • Deutsche Forschungsgemeinschaft
    • Kennedyallee 40
    • 53175  Bonn
    • Germany
    end of 1:1-Block address otherSupport
    start of 1:1-Block address contact otherSupport
    end of 1:1-Block address contact otherSupport
end of 1:n-Block material support
start of 1:1-Block state

Status

  •   Recruiting ongoing
  •   [---]*
end of 1:1-Block state
start of 1:n-Block publications

Trial Publications, Results and other Documents

  • [---]*
end of 1:n-Block publications
* This entry means the parameter is not applicable or has not been set.