Defects of Keratinocytes Function in Dermatologic Patients

NCT ID: NCT06324552

Last Updated: 2024-06-14

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

50 participants

Study Classification

OBSERVATIONAL

Study Start Date

2020-10-12

Study Completion Date

2024-08-31

Brief Summary

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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

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Conditions

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Hidradenitis Suppurativa

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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Inclusion Criteria

* diagnosis of HS

Exclusion Criteria

* no informed consent
Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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IRCCS Burlo Garofolo

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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Medical University Innsbruck

Innsbruck, , Austria

Site Status COMPLETED

Université Libre de Bruxelles

Brussels, , Belgium

Site Status RECRUITING

Université Paris Est-Créteil / INSERM U955- Mondor Institute For Biomedical Research (IMRB)

Créteil, , France

Site Status ACTIVE_NOT_RECRUITING

Centre National de la Recherche Scientifique

Strasbourg, , France

Site Status ACTIVE_NOT_RECRUITING

Dessau Medical Cente

Brandenburg, , Germany

Site Status NOT_YET_RECRUITING

Uniklinik Köln

Cologne, , Germany

Site Status COMPLETED

Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinic

Milan, , Italy

Site Status RECRUITING

Azienda ospedaliero-universitaria pisana

Pisa, , Italy

Site Status RECRUITING

Istituto Dermopatico dell'Immacolata, IRCCS

Roma, , Italy

Site Status RECRUITING

Passion people

Roma, , Italy

Site Status ACTIVE_NOT_RECRUITING

Policlinico Universitario Fondazione A. Gemelli IRCCS

Roma, , Italy

Site Status RECRUITING

Ospedale Maggiore di Trieste

Trieste, , Italy

Site Status RECRUITING

Institute for Maternal and Child Health - IRCCS "Burlo Garofolo"

Trieste, , Italy

Site Status RECRUITING

Ospedale San Bortolo

Vicenza, , Italy

Site Status RECRUITING

Jozef Stefan Institute

Ljubljana, , Slovenia

Site Status ACTIVE_NOT_RECRUITING

Countries

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Austria Belgium France Germany Italy Slovenia

Central Contacts

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Paola Maura Tricarico, BSc

Role: CONTACT

+39 0403785111

Facility Contacts

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Veronique del Marmol

Role: primary

Christos C. Zouboulis

Role: primary

Angelo Valerio Marzano, MD

Role: primary

Valentina Pini

Role: primary

Damiano Abeni

Role: primary

Andrea Chiricozzi

Role: primary

Iris Zalaudek, MD

Role: primary

Paola Maura Tricarico, BSc

Role: primary

+39 0403785111

Andrea Sechi

Role: primary

Other Identifiers

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RC 16/18

Identifier Type: -

Identifier Source: org_study_id

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