Understanding Keratinocyte Function in Skin Diseases

Defects of Keratinocytes Function in Dermatologic Patients Carrying Genetic Variants Involved in NOTCH Signaling

IRCCS Burlo Garofolo · NCT06324552

This study looks at how a specific signaling process in skin cells might be linked to hidradenitis suppurativa and Dowling-Degos disease to better understand these conditions and test new treatments.

Quick facts

Study typeObservational
Enrollment50 (estimated)
SexAll
SponsorIRCCS Burlo Garofolo (other)
Locations15 sites (Innsbruck and 14 other locations)
Trial IDNCT06324552 on ClinicalTrials.gov

What this trial studies

This observational study investigates the role of NOTCH signaling in keratinocyte function related to hidradenitis suppurativa (HS) and Dowling-Degos disease (DDD). It aims to enhance the understanding of the pathogenesis of these orphan diseases by analyzing gene variants that impair NOTCH signaling. The study will utilize in vitro models derived from patient hair follicles and keratinocyte cell cultures to explore the mechanisms underlying these conditions and test innovative therapies like photobiomodulation.

Who should consider this trial

Good fit: Ideal candidates for this study are individuals diagnosed with hidradenitis suppurativa.

Not a fit: Patients who do not have hidradenitis suppurativa or cannot provide informed consent will not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved understanding and potential new treatments for hidradenitis suppurativa and Dowling-Degos disease.

How similar studies have performed: While this study focuses on specific gene variants and their effects, similar studies have shown promise in understanding keratinocyte function in skin diseases, indicating potential for success.

Eligibility criteria

Show full inclusion / exclusion criteria
Inclusion Criteria:

* diagnosis of HS

Exclusion Criteria:

* no informed consent

Where this trial is running

Innsbruck and 14 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.

View on ClinicalTrials.gov →

Conditions: Hidradenitis Suppurativa, NOTCH signaling

Last reviewed 2026-05-15 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.