To Identify genetic variants and clinical phenotypes associated with risk of HS and to characterize the key cellular and molecular mechanisms and pathways involved in the pathogenesis of moderate-to-severe HS.
ID
Source
Brief title
Condition
- Skin appendage conditions
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Whole-exome sequencing and/or array genotyping to identify single variants
and/or gene-based burden tests significantly associated with HS status and
severity.
Secondary outcome
Transcriptional profiling through bulk RNA sequencing.
Background summary
Despite some progress in understanding and treating Hidradenitis suppurativa
(HS), significant improvements in therapeutic options will require a better
understanding of HS pathophysiology, particularly the underlying genetic
variants that may serve as important drivers of the disease.
Study objective
To Identify genetic variants and clinical phenotypes associated with risk of HS
and to characterize the key cellular and molecular mechanisms and pathways
involved in the pathogenesis of moderate-to-severe HS.
Study design
An exploratory observational study as part of a Europe wide consortium.
Study burden and risks
All research data will be handled in accordance with the Dutch Data Protection
Act and privacy regulations of Erasmus MC. Extra time during the visit is
required from participants as they need to fill out a questionnaire and more
information is needed from the physician. Furthermore, a swap and (optional)
blood sample is collected. Risks are minimal. A buccal swap is a non-invasive
method. Venepuncture has a small risk for pain, minor bleeding, and/or
hematoma. The patient will not directly benefit from this research, but
participation contributes to increased knowledge about HS and subsequently
improving treatment and care.
Auenweg 38
Dessau 06847
DE
Auenweg 38
Dessau 06847
DE
Listed location countries
Age
Inclusion criteria
• Male or female, age 18 years or older at the screening visit
• Patients must have a diagnosis of HS (in compliance with Dessau criteria as
modified in San Francisco) for at least one year (365 days) prior the screening
visit
• 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)
• Willing and able to comply with clinic visits and study-related procedures
• Provide informed consent signed by study patient or legally acceptable
representative
• Able to understand and complete study-related material
Exclusion criteria
- Presence of skin comorbidities (e.g. inverse psoriasis, epidermal inclusion
cyst) that may interfere with study assessments for HS
- Severe concomitant illness(es)
- Pregnant or breastfeeding women
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL84959.078.23 |