Defects of Keratinocytes Function in Dermatologic Patients

Hidradenitis Suppurativa Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT06324552
• Other study ID #: RC 16/18
• Status: Recruiting
• Start date: October 12, 2020
• Est. completion date: August 31, 2024

Study information

• Verified date: June 2024
• Source: IRCCS Burlo Garofolo
• Contact: Paola Maura Tricarico, BSc
• Phone: +39 0403785111
• Email: paolamaura.tricarico[@]burlo.trieste.it
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 50
• Est. completion date: August 31, 2024
• Est. primary completion date: June 3, 2023
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• diagnosis of HS

Exclusion Criteria:

• no informed consent

Related Conditions & MeSH terms

• Hidradenitis
• Hidradenitis Suppurativa

Locations

Country	Name	City	State
Austria	Medical University Innsbruck	Innsbruck
Belgium	Université Libre de Bruxelles	Bruxelles
France	Universite´ Paris Est-Cre´teil / INSERM U955- Mondor Institute For Biomedical Research (IMRB)	Créteil
France	Centre National de la Recherche Scientifique	Strasbourg
Germany	Dessau Medical Cente	Brandenburg
Germany	Uniklinik Ko¨ln	Köln
Italy	Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinic	Milano
Italy	Azienda ospedaliero-universitaria pisana	Pisa
Italy	Istituto Dermopatico dell'Immacolata, IRCCS	Roma
Italy	Passion people	Roma
Italy	Policlinico Universitario Fondazione A. Gemelli IRCCS	Roma
Italy	Institute for Maternal and Child Health - IRCCS "Burlo Garofolo"	Trieste
Italy	Ospedale Maggiore di Trieste	Trieste
Italy	Ospedale San Bortolo	Vicenza
Slovenia	Jozef Stefan Institute	Lubiana

Sponsors (1)

Lead Sponsor	Collaborator
IRCCS Burlo Garofolo

Countries where clinical trial is conducted

Austria,  Belgium,  France,  Germany,  Italy,  Slovenia, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	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