Other Specified Inflammatory Disorders of Skin or Subcutaneous Tissue | Observational Study of the Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases
Other Specified Inflammatory Disorders of Skin or Subcutaneous Tissue research study
What is the primary objective of this study?
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.
Who is eligible to participate?
Inclusion criteria: - History of NMID or active disease. - Informed consent. Exclusion criteria: - No consent to either part of the study.
Which medical condition, disease, disorder, syndrome, illness, or injury is researched?
Other Specified Inflammatory Disorders of Skin or Subcutaneous Tissue
Erosive Pustular Dermatosis of the Scalp
Bowel-associated Dermatosis-arthritis Syndrome
Acute Generalized Exanthematous Pustulosis
Amicrobial Pustulosis of the Folds
Transient Neonatal Pustulosis
Neutrophilic Eccrine Hidradenitis
Rheumatoid Neutrophilic Dermatitis
Unclassified Periodic Fever Syndromes / Autoinflammatory Syndromes
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
Interventions can include giving participants drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available or noninvasive approaches such as surveys, education, and interviews.
Procedure:Collection of biological samples
Research studies and clinical trials typically have two or more research arms. An arm is a group of people who receive the same treatment in the study.
Start Date: January 2014
Completed Date: January 2020
Primary Outcome: Enrichment of rare coding genetic variants
Study sponsors, principal investigator, and references
Principal Investigator: Alexander Navarini, MD
Lead Sponsor: University of Zurich