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: May 31, 2024

Study information

• Verified date: March 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: May 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
Italy	Institute for Maternal and Child Health - IRCCS "Burlo Garofolo"	Trieste

Sponsors (1)

Lead Sponsor	Collaborator
IRCCS Burlo Garofolo

Country where clinical trial is conducted

Italy, 

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