Exome Sequencing (Buccal Swabs Cohort) and Molecular Profiling (Blood Cohort and Skin Biopsy Cohort) in Patients with Hidradenitis Suppurativa (HS)

Conditions: L73.2
Hidradenitis suppurativa

Registration Number: DRKS00033591

Lead Sponsor: European Hidradenitis Suppurativa Foundation e.V.

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Pending

Sex: All

Target Recruitment: 4000

Inclusion Criteria

HS Patients Buccal Swab Cohort (exome sequencing)
1. Male or female, age 18 years or older at the screening/baseline visit.
2. Subjects must have the diagnosis of HS (in compliance with the Dessau criteria as modified in San Francisco) for at least one year (365 days) prior the screening/baseline visit.
3. HS lesions must be present in at least two distinct classical anatomic areas (e.g., left and right axilla; or left axilla and left inguino-crural fold)
4. Willing and able to comply with clinic visits and study-related procedures.
5. Provide informed consent signed by study patient.
6. Able to understand and complete study-related material.

Healthy Volunteers Buccal Swab/Blood/Skin Biopsy Cohorts (exome sequencing)
1. Male or female, age 18 years or older at the screening visit
2. Is judged by the investigator to be in good health based on medical history
3. Healthy volunteer weight and smoking habit may match with that of the HS patients
4. Willing and able to comply with clinic visits and study-related procedures
5. Provide informed consent signed by study patient.
6. Able to understand and complete study-related material.

HS Patients Blood/Skin Biopsy Cohorts (cellular and molecular profiling in moderate-to-severe HS)
1. Male or female, age 18 years or older at the screening visit.
2. Subjects must have the diagnosis of HS for at least one year (365 days) prior the baseline visit.
3. HS lesions must be present in at least two distinct anatomic areas (e.g., left and right axilla; or left axilla and left inguino-crural fold), one of which must be Hurley Stage II or Hurley Stage III.
4. IHS4=4 and <11 with or without draining tunnels (50% of the patients included in Blood/Skin Biopsy Cohorts)
5. IHS4=11 with total draining tunnel count =2 (50% of the patients included in Blood/Skin Biopsy Cohorts)
6. Willing and able to comply with clinic visits and study-related procedures.
7. Provide informed consent signed by study patient or legally acceptable representative.
8. Able to understand and complete study-related material.

Exclusion Criteria

1. Presence of skin comorbidities (e.g. inverse psoriasis, epidermal inclusion cyst) that may interfere with study assessments for HS.
2. Severe concomitant illness(es) that, in the investigator’s judgment, would adversely affect the patient’s participation in the study. Examples include, but are not limited to, patients with short life expectancy, patients with uncontrolled diabetes, patients with cardiovascular conditions (eg, stage III or IV cardiac failure according to the New York Heart Association classification), severe renal conditions (eg, patients on dialysis), debilitating neurological conditions (eg, demyelinating diseases), active major autoimmune diseases (eg, lupus, inflammatory bowel disease, rheumatoid arthritis, etc.), other severe endocrinological, gastrointestinal, hepatobiliary, metabolic, pulmonary, or lymphatic diseases. The specific justification for patients excluded under this criterion will be noted in study documents.
3. Any other medical or psychological condition (including relevant laboratory abnormalities at screening) that, in the opinion of the investigator, may suggest a new and/or insufficiently understood disease, may present an unreasonable risk to the study patient as a result of his/her participation in this study, may make patient’s participation unreliable, or may interfere with study assessments. The specific justification for patients excluded under this criterion will be noted in study documents.
4. Pregnant or breastfeeding women
5. Unable to provide informed consent
6. The 65 Blood/Skin Biopsy Cohort patients should not be under treatment.

Study & Design

Study Type: observational

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Whole-exome sequencing and/or array genotyping to identify single variants and/or gene-based burden tests significantly associated with HS status (p<5e-08 for GWAS, p<1e-07 for single marker ExWAS, p<1e-06 for gene-based burden test).<br>

Secondary Outcome Measures