Defects of Keratinocytes Function in Dermatologic Patients

June 13, 2024 updated by: IRCCS Burlo Garofolo

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

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.

Study Overview

Status

Recruiting

Conditions

Study Type

Observational

Enrollment (Estimated)

50

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • Austria
      • Innsbruck, Austria
        • Completed
        • Medical University Innsbruck
  • Belgium
      • Bruxelles, Belgium
        • Recruiting
        • Université libre de Bruxelles
        • Contact:
  • France
      • Créteil, France
        • Active, not recruiting
        • Université Paris Est-Créteil / INSERM U955- Mondor Institute For Biomedical Research (IMRB)
      • Strasbourg, France
        • Active, not recruiting
        • Centre National de la Recherche Scientifique
  • Germany
      • Brandenburg, Germany
      • Köln, Germany
        • Completed
        • Uniklinik Koln
  • Italy
      • Milano, Italy
        • Recruiting
        • Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinic
        • Contact:
      • Pisa, Italy
      • Roma, Italy
        • Recruiting
        • Istituto Dermopatico dell'Immacolata, IRCCS
        • Contact:
      • Roma, Italy
        • Active, not recruiting
        • Passion people
      • Roma, Italy
      • Trieste, Italy, 34137
        • Recruiting
        • Institute for Maternal and Child Health - IRCCS "Burlo Garofolo"
        • Contact:
      • Trieste, Italy, 34125
      • Vicenza, Italy
  • Slovenia
      • Lubiana, Slovenia
        • Active, not recruiting
        • Jozef Stefan Institute

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

Children and adults with clinical diagnosis of HS

Description

Inclusion Criteria:

  • diagnosis of HS

Exclusion Criteria:

  • no informed consent

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

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

Secondary Outcome Measures

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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

IRCCS Burlo Garofolo

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

October 12, 2020

Primary Completion (Actual)

June 3, 2023

Study Completion (Estimated)

August 31, 2024

Study Registration Dates

First Submitted

March 15, 2024

First Submitted That Met QC Criteria

March 15, 2024

First Posted (Actual)

March 22, 2024

Study Record Updates

Last Update Posted (Actual)

June 14, 2024

Last Update Submitted That Met QC Criteria

June 13, 2024

Last Verified

June 1, 2024

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • RC 16/18

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Hidradenitis Suppurativa

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Kuwait

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

Subscribe