Trial document




This trial has been registered retrospectively.
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  DRKS00015997

Trial Description

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Title

Registry for the Therapy of Severe Combined Immunodeficiency

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Trial Acronym

[---]*

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URL of the Trial

http://wird erstellt

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Brief Summary in Lay Language

Severe Combined Immunodeficiency (SCID) is a group of genetically heterogeneous diseases, which is clinically defined by the occurrence of severe and/ or atypical infections in the first months of life. The specific cellular immunity (T cells) as well as the specific humoral immunity (B cells, immunoglobulins) are affected. Without the establishment of a functional T-cell system, the disease is fatal within the first year of life. Currently, for the majority of patients an allogeneic stem cell transplantation is performed to establish T-cell function. For some SCID-entities, the genetic manipulation of autologous stem cells is studied in clinical trials.
The incidence of SCID in Germany has never been defined. Data from the United States suggest an incidence between 1:50.000 and 1:100.000. Thus, every year an estimated 10-20 children with SCID are born in Germany. In addition to these, SCID-patients born abroad are treated in Europe. The therapy of these is not centralized in Germany. In order to collect cohorts which are large enough for clinical studies, European and -in recent years- transatlantic cooperations were formed. The experience with these consistently retrospective approaches is, that with the heterogeneity of data sets originating from many centers relevant questions cannot be answered. A prospective collection of data concerning the immunophenotype, genetics, stem cell transplantation and outcome has not been performed yet.
Aim of the registry is to collect prospective data on all SCID-patients treated in Austria, Switzerland and Germany. Standardized diagnostic data sets before transplantation and the correlation of these with therapeutic data can contribute to the improvement of the quality of care.

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Brief Summary in Scientific Language

Severe Combined Immunodeficiencies (SCIDs) comprise a group of rare diseases which are clinically defined by severe life-threatening infections with onset in the first year of life. The estimated incidence for Germany, Austria and Switzerland is about 1: 50 000 to 1: 100 000. Thus, a number of 10-20 children are expected to be born in the three countries per year. Hematopoietic stem cell transplantation is currently the only established therapy for this patient group. The primary objective of this registry is to collect data from all patients treated with SCID in Germany, Austria and Switzerland in order to improve patient care. The activities of the registry are divided in three major parts: 1. prospective collection of patient data in a central database; 2. structured counseling of centers treating patients with SCID by members of the steering committee; 3. collection of patient samples (mononuclear cells, serum, cell lines) in a central biobank before and after hematopoietic stem cell transplantation to complete diagnostic and laboratory data and to support accompanying scientific projects.
The correlation of data referring to the clinical presentation, genetic background, immunophenotype, transplantation, therapeutic complications, infections and post-transplant immune function as well as quality of life will allow to make future therapeutic decisions on a scientific basis. The total duration of the registry is not limited as therapeutic decisions in early infancy may have substantial consequences on late effects (immunological reconstitution, chronic infections, fertility, QoL) in adulthood more than 20 years later.

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Organizational Data

  •   DRKS00015997
  •   2019/01/04
  •   [---]*
  •   yes
  •   Approved
  •   282/16, Ethik-Kommission der Universität Ulm
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Secondary IDs

  • [---]*
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Health Condition or Problem studied

  •   D81 -  Combined immunodeficiencies
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Interventions/Observational Groups

  •   observation group;
    prospective multicenter data collection of the clinical presentation, transplantation or cellular therapy and follow up of all patients with SCID treated in Austria, Switzerland and Germany; collection of biomaterials in a centralized biobank; clinical counseling is offered by members of the steering committee.
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Characteristics

  •   Non-interventional
  •   Observational study
  •   Single arm study
  •   Open (masking not used)
  •   [---]*
  •   Uncontrolled/Single arm
  •   Basic research/physiological study
  •   Single (group)
  •   N/A
  •   N/A
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Primary Outcome

improvement of care,
prospective and standardized data collection and clinical counseling

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Secondary Outcome

basic science and improvement of clinical care

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Countries of Recruitment

  •   Germany
  •   Austria
  •   Switzerland
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Locations of Recruitment

  • University Medical Center 
  • University Medical Center 
  • University Medical Center 
  • University Medical Center 
  • University Medical Center 
  • University Medical Center 
  • University Medical Center 
  • University Medical Center 
  • University Medical Center 
  • University Medical Center 
  • University Medical Center 
  • University Medical Center 
  • Medical Center 
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Recruitment

  •   Actual
  •   2018/01/15
  •   100
  •   Multicenter trial
  •   International
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Inclusion Criteria

  •   Both, male and female
  •   0   Years
  •   2   Years
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Additional Inclusion Criteria

≤24 months of age at diagnosis
clinical (atypical/ severe infections, signs of Omenn´s syndrome or autoimmune phenomena, failure to thrive, positive family Hx for SCID) and lab criteria (maternal T cells, reduced T-cell-count/ T-cell-proliferation/ percentage of naive T cells, mutation in a gene associated with SCID); further criterium is a posuitive result in the neonatal screening for SCID.

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Exclusion Criteria

age >24 months (despite meeting other criteria)
missing infromed consent to participate in study

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Addresses

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    • Universitätsklinikum UlmKlinik für Kinder- und Jugendmedizin
    • Mr.  PD Dr. med.  Manfred  Hönig 
    • Eythstrasse 24
    • 89075  Ulm
    • Germany
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    • Dr. von Haunersches Kinderspital
    • Mr.  PD Dr. med.  Michael  Albert 
    • Lindwurmstraße 4
    • 80337  München
    • Germany
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    • Sektion Pädiatrische Immunologie (CCI)Zentrum für Kinder- und JugendmedizinUniversitätsklinikum Freiburg
    • Mr.  Prof. Dr. med.  Stephan  Ehl 
    • Breisacher strasse 115
    • 79106  Freiburg
    • Germany
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    • Abteilung für Pädiatrische Onkologie, Hämatologie und Hämostaseologie, Department für Kinder- und Frauenmedizin, Universitätsklinikum Leipzig AöR
    • Mr.  Dr. med.  Jörn-Sven  Kühl 
    • Liebigstrasse 20a
    • 04103  Leipzig
    • Germany
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    • Kinderklinik der Medizinischen Hochschule Hannover, MHH
    • Mr.  Prof. Dr. med.  Karl-Walter  Sykora 
    • Carl-Neuberg-strasse 1
    • 30625  Hannover
    • Germany
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    • Universitätskliniken-Eleonorenstiftung forschungszentrum für das Kind (FZK)
    • Mr.  Prof. Dr. med.  Tayfun  Güngör 
    • Steinwiessreasse 75
    • CH-8032  Zürich
    • Switzerland
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    • St. Anna Kinderspital & Universitätsklinik für Kinder- und Jugendheilkunde
    • Mr.  Assoc. Prof. Dr. med.  Kaan  Boztug 
    • Kinderspitalgasse 6
    • A-1090  Wien
    • Austria
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    • Universitätsklinikum UlmKlinik für Kinder- und Jugendmedizin
    • Mr.  PD Dr. med.  Manfred  Hönig 
    • Eythstrasse 24
    • 89075  Ulm
    • Germany
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    • Universitätsklinikum UlmKlinik für Kinder- und Jugendmedizin
    • Mr.  PD Dr. med.  Manfred  Hönig 
    • Eythstrasse 24
    • 89075  Ulm
    • Germany
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Sources of Monetary or Material Support

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    • Deutsche Kinderkrebsstiftung
    • Adenauerallee 134
    • 53113  Bonn
    • Germany
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Status

  •   Recruiting ongoing
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Trial Publications, Results and other Documents

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