Pyoderma Gangrenosum Clinical Trial
— NEUTROGENEOfficial title:
Assessment of the Enrichment of Rare Coding Genetic Variants in Patients Affected by Neutrophil-Mediated Inflammatory Dermatoses
This study investigates the genetic architecture of Neutrophil-Mediated Inflammatory Skin
Diseases. After collecting informed consent, all patients' clinical phenotype is graded at
inclusion with a detailed case report form and a discovery cohort formed based on the
certainty of diagnosis. The DNA of patients in the discovery cohort is analyzed by whole
exome sequencing which identifies all protein-coding genetic variants. Subsequently,
statistical burden tests are going to identify enrichment of rare coding genetic variants in
patients affected by Neutrophil-Mediated Inflammatory Skin Diseases.
The ultimate goal is to reveal the responsible gene(s) that may then be targets for clinical
intervention.
Status | Recruiting |
Enrollment | 600 |
Est. completion date | January 2020 |
Est. primary completion date | January 2020 |
Accepts healthy volunteers | No |
Gender | Both |
Age group | N/A to 120 Years |
Eligibility |
Inclusion criteria: - History of NMID or active disease. - Informed consent. Exclusion criteria: - No consent to either part of the study. |
Observational Model: Case-Only, Time Perspective: Cross-Sectional
Country | Name | City | State |
---|---|---|---|
Switzerland | University Hospital Zurich, Dept. of Dermatology | Zurich | ZH |
Lead Sponsor | Collaborator |
---|---|
University of Zurich |
Switzerland,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Enrichment of rare coding genetic variants | Whole exome sequencing is going to detect rare coding genetic variants in cases of Neutrophil-Mediated Inflammatory Skin Diseases. Statistical burden tests are applied to test for excess of rare variants in cases versus available controls of matching ancestry. | baseline | No |
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