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RecruitingNCT06324552Updated Jun 14, 2024

Defects of Keratinocytes Function in Dermatologic Patients

An observational study in Hidradenitis Suppurativa, sponsored by IRCCS Burlo Garofolo. Recruiting at 15 sites in 6 countries. Per ClinicalTrials.gov, last updated 2024-06-14.

Sponsored by IRCCS Burlo Garofolo · Observational

From the registry’s dates

  • Started Oct 2020; still recruiting 5 years 11 months later.
Study type
Observational
Model
Cohort
Time perspective
Prospective
Enrollment
50
Sex
All
01

Study 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.

02

Conditions studied

  • Hidradenitis Suppurativa

Keywords

  • Hidradenitis Suppurativa
  • NOTCH signaling
03

In context

Hidradenitis Suppurativa

277 studies on the registry are indexed under Hidradenitis Suppurativa; 88 are open to participants now.

This study's planned enrollment of 50 is below the median of 142 across 69 observational studies indexed under Hidradenitis Suppurativa.

Browse Hidradenitis Suppurativa studies →

Lead sponsor

IRCCS Burlo Garofolo is the lead sponsor of 87 studies on the registry; 32 are open to participants now.

Counted across the registry records on this site, refreshed daily.

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Who can participate

Ages eligible
Child (0–17), Adult (18–64), Older adult (65+)
Sexes eligible
All
Accepts healthy volunteers
Yes
Sampling method
Non-probability sample

Study population

Children and adults with clinical diagnosis of HS

Inclusion criteria

  • diagnosis of HS

Exclusion criteria

Exclusion Criteria:

  • no informed consent
05

Study design

Observational model
Cohort
Time perspective
Prospective
Enrollment
50 participants (estimated)
Patient registry
No
Biospecimen retention
Samples with dna
06

What researchers measure

Primary outcomes

  1. 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

Secondary outcomes

  1. 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

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Study locations

8 of 15 sites recruiting
  • Medical University Innsbruck
    Innsbruck, Austria
    Completed
  • Université Libre de Bruxelles
    Bruxelles, Belgium
    Recruiting
  • Université Paris Est-Créteil / INSERM U955- Mondor Institute For Biomedical Research (IMRB)
    Créteil, France
    Active, not recruiting
  • Centre National de la Recherche Scientifique
    Strasbourg, France
    Active, not recruiting
  • Dessau Medical Cente
    Brandenburg, Germany
    Not yet recruiting
  • Uniklinik Köln
    Köln, Germany
    Completed
  • Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinic
    Milano, Italy
    Recruiting
  • Azienda ospedaliero-universitaria pisana
    Pisa, Italy
    Recruiting
  • Istituto Dermopatico dell'Immacolata, IRCCS
    Roma, Italy
    Recruiting
  • Passion people
    Roma, Italy
    Active, not recruiting
  • Policlinico Universitario Fondazione A. Gemelli IRCCS
    Roma, Italy
    Recruiting
  • Ospedale Maggiore di Trieste
    Trieste, 34125, Italy
    Recruiting
  • Institute for Maternal and Child Health - IRCCS "Burlo Garofolo"
    Trieste, 34137, Italy
    Recruiting
  • Ospedale San Bortolo
    Vicenza, Italy
    Recruiting
  • Jozef Stefan Institute
    Lubiana, Slovenia
    Active, not recruiting
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Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Jun 14, 2024, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
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Registry details

Key details

Study ID
NCT06324552
Lead sponsor
IRCCS Burlo Garofolo
Responsible party
Sponsor
First posted
Mar 22, 2024
Start date
Oct 12, 2020
Primary completion
Jun 3, 2023
Completion
Aug 31, 2024 (estimated)
Last update
Jun 14, 2024

Study contacts

Paola Maura Tricarico, BSc
Contact
paolamaura.tricarico@burlo.trieste.it
+39 0403785111

Oversight

Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

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