Defects of Keratinocytes Function in Dermatologic Patients

Recruiting

• Conditions: Hidradenitis Suppurativa

• Registration Number: NCT06324552
• Lead Sponsor: IRCCS Burlo Garofolo

Brief Summary

NOTCH signaling in the skin exerts a pivotal role in the regulation of normal keratinocytes turnover by mediating the balance between proliferation, differentiation, apoptosis and autophagic flux progression. Two skin diseases are characterized by the presence of gene variants that cause an impairment in NOTCH signaling: hidradenitis suppurativa(HS) and Dowling-Degos disease(DDD). To date, both HS and DDD are orphan diseases still lacking of specific treatments. This project aims at improving the current knowledge on the pathogenesis of HS and DDD, by deepening the understandings on the role played by keratinocytes in these pathologies and also by determining why mutations found in the same pathway cause different diseases. This study aimed to obtain in vitro models, derived directly from patients (from hair follicles) and from keratinocytes (HaCaT) cell cultures, for the study of these skin pathologies and also for the testing of novel innovative therapies such as photobiomodulation therapy.

Detailed Description

Not available

Study Timeline

• Study Start: 2020-10-12
• Primary Completion: 2023-06-03
• Study First Submitted: 2024-03-15
• Study First Submitted QC: 2024-03-15
• Study First Posted: 2024-03-22
• Status Verified: 2024-06
• Last Update Submitted: 2024-06-13
• Last Update Posted: 2024-06-14
• Study Completion: 2024-08-31

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 50

Inclusion Criteria

• diagnosis of HS

Exclusion Criteria

• no informed consent

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Evaluation of the impact of candidate variants in hair follicles epithelial cell biology by generating Knock-Out (KO) keratinocyte cell lines (HaCaT)	Through study completion, an average of 36 months

Secondary Outcome Measures

Name	Time	Method
Evaluation of the impact of photobiomodulation (PBM) therapy in hair follicles epithelial cells derived from patients and in HaCaT KO cells,	Through study completion, an average of 36 months

Trial Locations

Locations (15)

Azienda ospedaliero-universitaria pisana; 🇮🇹 Pisa, Italy

Ospedale San Bortolo; 🇮🇹 Vicenza, Italy

Centre National de la Recherche Scientifique; 🇫🇷 Strasbourg, France

Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinic; 🇮🇹 Milano, Italy

Passion people; 🇮🇹 Roma, Italy

Medical University Innsbruck; 🇦🇹 Innsbruck, Austria

Dessau Medical Cente; 🇩🇪 Brandenburg, Germany

Uniklinik Köln; 🇩🇪 Köln, Germany

Ospedale Maggiore di Trieste; 🇮🇹 Trieste, Italy

Istituto Dermopatico dell'Immacolata, IRCCS; 🇮🇹 Roma, Italy

Université Libre de Bruxelles; 🇧🇪 Bruxelles, Belgium

Institute for Maternal and Child Health - IRCCS "Burlo Garofolo"; 🇮🇹 Trieste, Italy

Jozef Stefan Institute; 🇸🇮 Lubiana, Slovenia

Université Paris Est-Créteil / INSERM U955- Mondor Institute For Biomedical Research (IMRB); 🇫🇷 Créteil, France

Policlinico Universitario Fondazione A. Gemelli IRCCS; 🇮🇹 Roma, Italy