Defects of Keratinocytes Function in Dermatologic Patients

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

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT06324552

Enrollment

Registered

2024-03-22

Start date

2020-10-12

Completion date

2024-08-31

Last updated

2024-06-14

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Hidradenitis Suppurativa

Keywords

Hidradenitis Suppurativa, NOTCH signaling

Brief 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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Healthy volunteers

Yes

Inclusion criteria

* diagnosis of HS

Exclusion criteria

* no informed consent

Design outcomes

Primary

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)	Through study completion, an average of 36 months

Secondary

Measure	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

Countries

Austria, Belgium, France, Germany, Italy, Slovenia

Contacts

Primary ContactPaola Maura Tricarico, BSc

paolamaura.tricarico@burlo.trieste.it+39 0403785111

Outcome results