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Observational Study of the Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases (NEUTROGENE)
This study is currently recruiting participants.
Verified September 2016 by University of Zurich
Sponsor:
University of Zurich
Information provided by (Responsible Party):
University of Zurich
ClinicalTrials.gov Identifier:
NCT01952275
First received: September 17, 2013
Last updated: September 26, 2016
Last verified: September 2016
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Purpose
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.
| Condition | Intervention |
|---|---|
| Other Specified Inflammatory Disorders of Skin or Subcutaneous Tissue Pyoderma Gangrenosum Erosive Pustular Dermatosis of the Scalp Sweet's Syndrome Behcet's Disease Bowel-associated Dermatosis-arthritis Syndrome Pustular Psoriasis Acute Generalized Exanthematous Pustulosis Keratoderma Blenorrhagicum Sneddon-Wilkinson Disease IgA Pemphigus Amicrobial Pustulosis of the Folds Infantile Acropustulosis Transient Neonatal Pustulosis Neutrophilic Eccrine Hidradenitis Rheumatoid Neutrophilic Dermatitis Neutrophilic Urticaria Still's Disease Erythema Marginatum Unclassified Periodic Fever Syndromes / Autoinflammatory Syndromes Dermatitis Herpetiformis Linear IgA Bullous Dermatosis Bullous Systemic Lupus Erythematosus Inflammatory Epidermolysis Bullosa Aquisita Neutrophilic Dermatosis of the Dorsal Hands (Pustular Vasculitis) Small Vessel Vasculitis Including Urticarial Vasculitis Erythema Elevatum Diutinum Medium Vessel Vasculitis | Procedure: Collection of biological samples |
| Study Type: | Observational |
| Study Design: | Observational Model: Case-Only Time Perspective: Cross-Sectional |
| Official Title: | Assessment of the Enrichment of Rare Coding Genetic Variants in Patients Affected by Neutrophil-Mediated Inflammatory Dermatoses |
Resource links provided by NLM:
Genetics Home Reference related topics:
Behçet disease
STING-associated vasculopathy with onset in infancy
epidermolysis bullosa with pyloric atresia
MedlinePlus related topics:
Skin Conditions
Genetic and Rare Diseases Information Center resources:
Epidermolysis Bullosa
Pemphigus
Pyoderma Gangrenosum
Pustulosis Palmaris Et Plantaris
Pustular Psoriasis
Hypocomplementemic Urticarial Vasculitis
Familial Mediterranean Fever
Behçet Disease
Linear IgA Disease
Dermatitis Herpetiformis
Erythema Elevatum Diutinum
Epidermolysis Bullosa Acquisita
Acute Febrile Neutrophilic Dermatosis
Erosive Pustular Dermatosis of the Scalp
Brucellosis
Tylosis
Panuveitis
Uveal Diseases
U.S. FDA Resources
Further study details as provided by University of Zurich:
Primary Outcome Measures:
- Enrichment of rare coding genetic variants [ Time Frame: baseline ]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.
Biospecimen Retention: Samples With DNA
Saliva or Blood Serum Histology FFPE
| Estimated Enrollment: | 600 |
| Study Start Date: | January 2014 |
| Estimated Study Completion Date: | January 2020 |
| Estimated Primary Completion Date: | January 2020 (Final data collection date for primary outcome measure) |
Timeframe:
- Collection of DNA for discovery cohort until 05/2016
- Data analysis until 12/2014 for pyoderma gangrenosum, until 12/2016 for other NMID
- Report and data presentation early 2015 for PG, 2017 for other NMID
Eligibility| Ages Eligible for Study: | up to 120 Years (Child, Adult, Senior) |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | No |
| Sampling Method: | Probability Sample |
Study Population
Patients with a history of Neutrophil-Mediated Inflammatory Dermatoses (NMID) of any subtype
Criteria
Inclusion criteria:
- History of NMID or active disease.
- Informed consent.
Exclusion criteria:
- No consent to either part of the study.
Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study.
To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below.
For general information, see Learn About Clinical Studies.
Please refer to this study by its ClinicalTrials.gov identifier: NCT01952275
Please refer to this study by its ClinicalTrials.gov identifier: NCT01952275
Contacts
| Contact: Alexander Navarini, MD | alexander.navarini@usz.ch |
Locations
| Switzerland | |
| University Hospital Zurich, Dept. of Dermatology | Recruiting |
| Zurich, ZH, Switzerland, 8091 | |
Sponsors and Collaborators
University of Zurich
Investigators
| Principal Investigator: | Alexander Navarini, MD | University Hospital Zurich, Dept. of Dermatology |
More Information
| Responsible Party: | University of Zurich |
| ClinicalTrials.gov Identifier: | NCT01952275 History of Changes |
| Other Study ID Numbers: |
USZ-DER-AAN-019 |
| Study First Received: | September 17, 2013 |
| Last Updated: | September 26, 2016 |
Additional relevant MeSH terms:
|
Syndrome Psoriasis Dermatitis Lupus Erythematosus, Systemic Urticaria Vasculitis Epidermolysis Bullosa Erythema Hidradenitis Behcet Syndrome Pemphigus Pyoderma Skin Diseases Pyoderma Gangrenosum Familial Mediterranean Fever |
Skin Diseases, Vesiculobullous Dermatitis Herpetiformis Vasculitis, Leukocytoclastic, Cutaneous Epidermolysis Bullosa Acquisita Keratosis Sweet Syndrome Linear IgA Bullous Dermatosis Acute Generalized Exanthematous Pustulosis Disease Pathologic Processes Skin Diseases, Papulosquamous Connective Tissue Diseases Autoimmune Diseases Immune System Diseases Skin Diseases, Vascular |
ClinicalTrials.gov processed this record on June 23, 2017