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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.
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| Measure | Description | Time Frame |
|---|---|---|
| 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 |
| Measure | Description | Time Frame |
|---|---|---|
| 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 |
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Inclusion Criteria:
Exclusion Criteria:
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Children and adults with clinical diagnosis of HS
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Paola Maura Tricarico, BSc | Contact | +39 0403785111 | paolamaura.tricarico@burlo.trieste.it |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Medical University Innsbruck | Completed | Innsbruck | Austria | |||
| Université Libre de Bruxelles |
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| ID | Term |
|---|---|
| D017497 | Hidradenitis Suppurativa |
| ID | Term |
|---|---|
| D017192 | Skin Diseases, Bacterial |
| D001424 | Bacterial Infections |
| D001423 | Bacterial Infections and Mycoses |
| D007239 | Infections |
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Blood samples
| Recruiting |
| Brussels |
| Belgium |
|
| Université Paris Est-Créteil / INSERM U955- Mondor Institute For Biomedical Research (IMRB) | Active, not recruiting | Créteil | France |
| Centre National de la Recherche Scientifique | Active, not recruiting | Strasbourg | France |
| Dessau Medical Cente | Not yet recruiting | Brandenburg | Germany |
|
| Uniklinik Köln | Completed | Cologne | Germany |
| Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinic | Recruiting | Milan | Italy |
|
| Azienda ospedaliero-universitaria pisana | Recruiting | Pisa | Italy |
|
| Istituto Dermopatico dell'Immacolata, IRCCS | Recruiting | Roma | Italy |
|
| Passion people | Active, not recruiting | Roma | Italy |
| Policlinico Universitario Fondazione A. Gemelli IRCCS | Recruiting | Roma | Italy |
|
| Ospedale Maggiore di Trieste | Recruiting | Trieste | 34125 | Italy |
|
| Institute for Maternal and Child Health - IRCCS "Burlo Garofolo" | Recruiting | Trieste | 34137 | Italy |
|
| Ospedale San Bortolo | Recruiting | Vicenza | Italy |
|
| Jozef Stefan Institute | Active, not recruiting | Ljubljana | Slovenia |
| D012874 | Skin Diseases, Infectious |
| D013492 | Suppuration |
| D012871 | Skin Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D016575 | Hidradenitis |
| D013543 | Sweat Gland Diseases |