Trial document

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DRKS-ID: DRKS00000045

Trial Description

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Title

Genotype-PhenotypeRelationsship in Sarcoidosis

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Trial Acronym

GenoPhenoReSa

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URL of the Trial

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Brief Summary in Lay Language

The influence of the genetic background on the clinical phenotype will be investigated.

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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.

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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: DRKS00000045
Date of Registration in DRKS: 2008/11/18
Date of Registration in Partner Registry or other Primary Registry: 2006/09/19
Investigator Sponsored/Initiated Trial (IST/IIT): yes
Ethics Approval/Approval of the Ethics Committee: Approved
(leading) Ethics Committee No.: 005/06, Ethik-Kommission der Albert-Ludwigs-Universität Freiburg

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Secondary IDs

Partner Registry-ID: UKF000874 (Register Klinischer Studien des Universitätsklinikums Freiburg)

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Health Condition or Problem studied

ICD10: D86.0 - Sarcoidosis of lung

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Interventions/Observational Groups

Arm 1: taking of a blood sample, genotypification and phänotypification

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Characteristics

Study Type: Non-interventional
Study Type Non-Interventional: Observational study
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Control: Uncontrolled/Single arm
Purpose: Basic research/physiological study
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Off-label Drug use: [---]*

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Primary Outcome

Relationship between candidate genes and clinical outcome

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Secondary Outcome

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Countries of Recruitment

DE: Germany
IS: Iceland
DK: Denmark
RU: Russian Federation
IE: Ireland
UK: United Kingdom
BE: Belgium
NL: Netherlands
PL: Poland
FR: France
CH: Switzerland
CZ: Czech Republic
HU: Hungary
SI: Slovenia
RS: Serbia
IT: Italy

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Locations of Recruitment

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Recruitment

Planned/Actual: Actual
(Anticipated or Actual) Date of First Enrollment: 2008/10/13
Target Sample Size: 2000
Monocenter/Multicenter trial: Multicenter trial
National/International: International

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Inclusion Criteria

Gender: Both, male and female
Minimum Age: no minimum age
Maximum Age: no maximum age

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Additional Inclusion Criteria

Sarcoidosis of any clinical phenotype diagnosed according to ATS/ERS criteria

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Exclusion Criteria

No sarcoidosis

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Addresses

Primary Sponsor
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- Universitätsklinikum Freiburg Medizinische Klinik V Abteilung Pneumologie
- Mr. Prof. Dr. med. Joachim Müller-Quernheim
- Killianstr. 5
- 79106 Freiburg
- Germany
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- Telephone: +49 761 270-3705
- Fax: [---]*
- E-mail: joachim.mueller-quernheim at uniklinik-freiburg.de
- URL: [---]*
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Contact for Scientific Queries
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- Universitätsklinikum Freiburg Medizinische Klinik V Abteilung Pneumologie
- Ms. Dr. med. Jasmin Yalcintepe
- Killianstr. 5
- 79106 Freiburg
- Germany
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- Telephone: 0761 270-34010
- Fax: [---]*
- E-mail: jasmin.yalcintepe at uniklinik-freiburg.de
- URL: http://www.uniklinik-freiburg.de/pneumologie/live/index.html
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Contact for Public Queries
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- Universitätsklinikum Freiburg Medizinische Klinik V Abteilung Pneumologie
- Ms. Dr. med. Jasmin Yalcintepe
- Killianstr. 5
- 79106 Freiburg
- Germany
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- Telephone: 0761 270-34010
- Fax: [---]*
- E-mail: jasmin.yalcintepe at uniklinik-freiburg.de
- URL: http://www.uniklinik-freiburg.de/pneumologie/live/index.html
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Sources of Monetary or Material Support

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 complete, follow-up complete
Study Closing (LPLV): 2012/03/30

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Trial Publications, Results and other Documents

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