Trial document
DRKS00000045
Trial Description
Title
Genotype-PhenotypeRelationsship in Sarcoidosis
Trial Acronym
GenoPhenoReSa
URL of the Trial
[---]*
Brief Summary in Lay Language
The influence of the genetic background on the clinical phenotype will be investigated.
Brief Summary in Scientific Language
Sarcoidosis is a systemic granulomatous disorder of unknown aetiology, preferentially affecting the lung. The disease has a wide spectrum of clinical courses, ranging from spontaneous remission to disabling organ damage or even death. There is accumulating evidence for a genetic susceptibility to sarcoidosis, including an association with genes in the major histocompatibility complex (MHC). In a genome-wide linkage study, we recognized seven chromosomal regions of aetiological relevance and recently identified BTNL2 as a new sarcoidosis disease gene on chromosome 6. In a genome-wide association study using 100K Affymetrix micro-arrays, we uncovered two additional susceptibility regions on chromosomes 7 and 10. In the present project, 2000 sarcoidosis patients will be extracted from a cohort of 5570 prevalent cases and genotyped for MHC genes, BTNL2, and an estimated 15 new positional candidate genes from our genome-wide 500K SNP chip studies and ongoing replication. Patients will be phenotyped at 31 study sites according to a standardized protocol and the relationship between their phenotype and genotype will be assessed. In particular, genotypes of patients with rare, unfavourable and chronic disease courses, including cardiac, neurological, cutaneous, and therapy-resistant manifestations, will be compared to those associated with spontaneous resolution. The patient cohort will be large enough to contain a suffi-ciently large number of rare phenotypes so as to ensure prognostic usefulness of the respective results. In practise, patients with adverse genotypes should be intensely monitored and would benefit most from new therapeutic approaches.
Organizational Data
- DRKS00000045
- 2008/11/18
- 2006/09/19
- yes
- Approved
- 005/06, Ethik-Kommission der Albert-Ludwigs-Universität Freiburg
Secondary IDs
- UKF000874 (Register Klinischer Studien des Universitätsklinikums Freiburg)
Health Condition or Problem studied
- D86.0 - Sarcoidosis of lung
Interventions/Observational Groups
- taking of a blood sample, genotypification and phänotypification
Characteristics
- Non-interventional
- Observational study
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- Uncontrolled/Single arm
- Basic research/physiological study
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Primary Outcome
Relationship between candidate genes and clinical outcome
Secondary Outcome
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Countries of Recruitment
- Germany
- Iceland
- Denmark
- Russian Federation
- Ireland
- United Kingdom
- Belgium
- Netherlands
- Poland
- France
- Switzerland
- Czech Republic
- Hungary
- Slovenia
- Serbia
- Italy
Locations of Recruitment
- [---]*
Recruitment
- Actual
- 2008/10/13
- 2000
- Multicenter trial
- International
Inclusion Criteria
- Both, male and female
- no minimum age
- no maximum age
Additional Inclusion Criteria
Sarcoidosis of any clinical phenotype diagnosed according to ATS/ERS criteria
Exclusion Criteria
No sarcoidosis
Addresses
-
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- Universitätsklinikum Freiburg Medizinische Klinik V Abteilung Pneumologie
- *** ***
- Killianstr. 5
- 79106 Freiburg
- Germany
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- 377374384477727167573877486a6d64497462476f6344562f6a586b70636347582b316a3965674d6d507a31674b70454d7538505944495758614b7965626256 at drks.de
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end of 1:1-Block address contact primary-sponsor -
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- Universitätsklinikum Freiburg Medizinische Klinik V Abteilung Pneumologie
- *** ***
- Killianstr. 5
- 79106 Freiburg
- Germany
end of 1:1-Block address scientific-contactstart of 1:1-Block address contact scientific-contact- ***
- [---]*
- 4c665066756d3531345a4d5262396e6944444b6c72576a4d4e4d51372f726c526b6f644f696e2f346365575152625a30446a57474f5037722b4b2f5569443471 at drks.de
- http://www.uniklinik-freiburg.de/pneumologie/live/index.html
end of 1:1-Block address contact scientific-contact -
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- Universitätsklinikum Freiburg Medizinische Klinik V Abteilung Pneumologie
- *** ***
- Killianstr. 5
- 79106 Freiburg
- Germany
end of 1:1-Block address public-contactstart of 1:1-Block address contact public-contact- ***
- [---]*
- 4c665066756d3531345a4d5262396e6944444b6c72576a4d4e4d51372f726c526b6f644f696e2f346365575152625a30446a57474f5037722b4b2f5569443471 at drks.de
- http://www.uniklinik-freiburg.de/pneumologie/live/index.html
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Sources of Monetary or Material Support
-
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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 complete, follow-up complete
- 2012/03/30
Trial Publications, Results and other Documents
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