Registry for the Therapy of Severe Combined Immunodeficiency
Organizational Data
- DRKS-ID:
- DRKS00015997
- Recruitment Status:
- Recruiting ongoing
- Date of registration in DRKS:
- 2019-01-04
- Last update in DRKS:
- 2019-01-04
- Registration type:
- Retrospective
Acronym/abbreviation of the study
No Entry
URL of the study
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.
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.
Health condition or problem studied
- ICD10:
- D81 - Combined immunodeficiencies
- Healthy volunteers:
- No Entry
Interventions, Observational Groups
- Arm 1:
- 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.
Endpoints
- Primary outcome:
- improvement of care, prospective and standardized data collection and clinical counseling
- Secondary outcome:
- basic science and improvement of clinical care
Study Design
- Purpose:
- Basic research/physiological study
- Retrospective/prospective:
- No Entry
- Study type:
- Non-interventional
- Longitudinal/cross-sectional:
- No Entry
- Study type non-interventional:
- No Entry
Recruitment
- Recruitment Status:
- Recruiting ongoing
- Reason if recruiting stopped or withdrawn:
- No Entry
Recruitment Locations
- Recruitment countries:
-
- Austria
- Germany
- Switzerland
- Number of study centers:
- Multicenter study
- Recruitment location(s):
-
- University medical center Universitätsklinik für Kinder- und Jugendmedizin Ulm
- University medical center Kinderspital Zürich
- University medical center Kinder- und Jugendmedizin Frankfurt a.M.
- University medical center Dr. von Hauner´sche Kinderklinik München
- University medical center Kinder- und Jugendmedizin Leipzig
- University medical center St. Anna Kinderspital Wien
- Medical center Kinder- und Jugendmedizin Dortmund
- University medical center Kinder- und Jugendmedizin Hannover
- University medical center Kinder- und Jugendmedizin Freiburg im Breisgau
- University medical center Kinder- und Jugendmedizin Essen
- University medical center Kinder- und Jugendmedizin Würzburg
- University medical center Kinder- und Jugendmedizin Hamburg Eppendorf
- University medical center Kinder- und Jugendmedizin Düsseldorf
Recruitment period and number of participants
- Planned study start date:
- No Entry
- Actual study start date:
- 2018-01-15
- Planned study completion date:
- No Entry
- Actual Study Completion Date:
- No Entry
- Target Sample Size:
- 100
- Final Sample Size:
- No Entry
Inclusion Criteria
- Sex:
- All
- Minimum Age:
- 0 Years
- Maximum Age:
- 2 Years
- 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.
Exclusion Criteria
age >24 months (despite meeting other criteria) missing infromed consent to participate in study
Addresses
Primary Sponsor
- Address:
- Universitätsklinikum UlmKlinik für Kinder- und JugendmedizinPD Dr. med. Manfred HönigEythstrasse 2489075 UlmGermany
- Telephone:
- 073150057154
- Fax:
- 073150057102
- Contact per E-Mail:
- Contact per E-Mail
- URL:
- No Entry
- Investigator Sponsored/Initiated Trial (IST/IIT):
- Yes
Contact for Scientific Queries
- Address:
- Universitätsklinikum UlmKlinik für Kinder- und JugendmedizinPD Dr. med. Manfred HönigEythstrasse 2489075 UlmGermany
- Telephone:
- 073150057154
- Fax:
- 073150057102
- Contact per E-Mail:
- Contact per E-Mail
- URL:
- No Entry
Contact for Public Queries
- Address:
- Universitätsklinikum UlmKlinik für Kinder- und JugendmedizinPD Dr. med. Manfred HönigEythstrasse 2489075 UlmGermany
- Telephone:
- 073150057154
- Fax:
- 073150057102
- Contact per E-Mail:
- Contact per E-Mail
- URL:
- No Entry
Principal Investigator
- Address:
- Universitätsklinikum UlmKlinik für Kinder- und JugendmedizinPD Dr. med. Manfred HönigEythstrasse 2489075 UlmGermany
- Telephone:
- 073150057154
- Fax:
- 073150057102
- Contact per E-Mail:
- Contact per E-Mail
- URL:
- No Entry
Sources of Monetary or Material Support
Private sponsorship (foundations, study societies, etc.)
- Address:
- Deutsche KinderkrebsstiftungAdenauerallee 13453113 BonnGermany
- Telephone:
- 0228688460
- Fax:
- 02286884644
- Contact per E-Mail:
- Contact per E-Mail
- URL:
- No Entry
Ethics Committee
Address Ethics Committee
- Address:
- Ethikkommission der Universität UlmHelmholtzstr. 2089081 UlmGermany
- Telephone:
- +49-731-50022050
- Fax:
- +49-731-50022036
- Contact per E-Mail:
- Contact per E-Mail
- URL:
- No Entry
Vote of leading Ethics Committee
- Vote of leading Ethics Committee
- Date of ethics committee application:
- 2016-08-18
- Ethics committee number:
- 282/16
- Vote of the Ethics Committee:
- Approved
- Date of the vote:
- 2016-12-07
Further identification numbers
- Other primary registry ID:
- No Entry
- EudraCT Number:
- No Entry
IPD - Individual Participant Data
- Do you plan to make participant-related data (IPD) available to other researchers in an anonymized form?:
- No Entry
- IPD Sharing Plan:
- No Entry
Study protocol and other study documents
- Study protocols:
- Studienprotokoll
- Study abstract:
- No Entry
- Other study documents:
- No Entry
- Background literature:
- No Entry
- Related DRKS studies:
- No Entry
Publication of study results
- Planned publication:
- No Entry
- Publikationen/Studienergebnisse:
- No Entry
- Date of first publication of study results:
- No Entry
- DRKS entry published for the first time with results:
- No Entry
Basic reporting
- Basic Reporting / Results tables:
- No Entry
- Brief summary of results:
- No Entry