Observational Study of the Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases (NEUTROGENE)

This study is currently recruiting participants.

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Contacts and Locations

Verified September 2016 by University of Zurich

Sponsor:

ClinicalTrials.gov Identifier:

NCT01952275

First Posted: September 27, 2013

Last Update Posted: September 27, 2016

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.

Information provided by (Responsible Party):

University of Zurich

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

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: Pyoderma Gangrenosum Epidermolysis Bullosa BehÃ§et Disease Pemphigus Familial Mediterranean Fever Pustulosis Palmaris Et Plantaris Pustular Psoriasis Hypocomplementemic Urticarial Vasculitis 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)

Detailed Description:

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

Information from the National Library of Medicine

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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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): 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
First Submitted:	September 17, 2013
First Posted:	September 27, 2013
Last Update Posted:	September 27, 2016
Last Verified:	September 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 Linear IgA Bullous Dermatosis Acute Generalized Exanthematous Pustulosis Vasculitis, Leukocytoclastic, Cutaneous Epidermolysis Bullosa Acquisita Keratosis Sweet Syndrome Disease Pathologic Processes Skin Diseases, Papulosquamous Connective Tissue Diseases Autoimmune Diseases Immune System Diseases Skin Diseases, Vascular

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