Clinical trial NCT01952275: Observational Study of the Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases
Official title: Assessment of the Enrichment of Rare Coding Genetic Variants in Patients Affected by Neutrophil-Mediated Inflammatory Dermatoses
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: 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
Lead sponsor: University of Zurich
Sponsor class: OTHER
First posted: 2013-09-27
Enrollment: 600
Sex: ALL
Maximum age (years): 120
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: CROSS_SECTIONAL
Sampling method: PROBABILITY_SAMPLE
Study population: Patients with a history of Neutrophil-Mediated Inflammatory Dermatoses (NMID) of any subtype

Brief summary: 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.

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 criteria: Inclusion criteria:

* History of NMID or active disease.
* Informed consent.

Exclusion criteria:

- No consent to either part of the study.

Primary outcomes:
measure: Enrichment of rare coding genetic variants
timeFrame: baseline
Secondary outcomes:
Other outcomes:
Locations:
city: Zurich
country: Switzerland
facility: University Hospital Zurich, Dept. of Dermatology
state: ZH
Study officials:
affiliation: University Hospital Zurich, Dept. of Dermatology
name: Alexander Navarini, MD
role: PRINCIPAL_INVESTIGATOR
References: