Clinical trial NCT06324552: Defects of Keratinocytes Function in Dermatologic Patients
Official title: Defects of Keratinocytes Function in Dermatologic Patients Carrying Genetic Variants Involved in NOTCH Signaling
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Hidradenitis Suppurativa
Keywords: Hidradenitis Suppurativa
NOTCH signaling
Lead sponsor: IRCCS Burlo Garofolo
Sponsor class: OTHER
First posted: 2024-03-22
Enrollment: 50
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Children and adults with clinical diagnosis of HS

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.


Eligibility criteria: Inclusion Criteria:

* diagnosis of HS

Exclusion Criteria:

* no informed consent

Primary outcomes:
measure: Evaluation of the impact of candidate variants in hair follicles epithelial cell biology by generating Knock-Out (KO) keratinocyte cell lines (HaCaT)
timeFrame: Through study completion, an average of 36 months
Secondary outcomes:
measure: Evaluation of the impact of photobiomodulation (PBM) therapy in hair follicles epithelial cells derived from patients and in HaCaT KO cells,
timeFrame: Through study completion, an average of 36 months
Other outcomes:
Locations:
city: Innsbruck
country: Austria
facility: Medical University Innsbruck
city: Bruxelles
country: Belgium
facility: Université Libre de Bruxelles
city: Créteil
country: France
facility: Université Paris Est-Créteil / INSERM U955- Mondor Institute For Biomedical Research (IMRB)
city: Strasbourg
country: France
facility: Centre National de la Recherche Scientifique
city: Brandenburg
country: Germany
facility: Dessau Medical Cente
city: Köln
country: Germany
facility: Uniklinik Köln
city: Milano
country: Italy
facility: Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinic
city: Pisa
country: Italy
facility: Azienda ospedaliero-universitaria pisana
city: Roma
country: Italy
facility: Istituto Dermopatico dell'Immacolata, IRCCS
city: Roma
country: Italy
facility: Passion people
city: Roma
country: Italy
facility: Policlinico Universitario Fondazione A. Gemelli IRCCS
city: Trieste
country: Italy
facility: Ospedale Maggiore di Trieste
city: Trieste
country: Italy
facility: Institute for Maternal and Child Health - IRCCS "Burlo Garofolo"
city: Vicenza
country: Italy
facility: Ospedale San Bortolo
city: Lubiana
country: Slovenia
facility: Jozef Stefan Institute
Study officials:
References: