Characterization of the Cytokine Profile and the Microbiome in Darier's Disease

NCT06614777 | Recruiting

• 1 other identifier: RC31/22/0509
• Study Type: interventional
• Target: 40
• Locations: 1 country
• Sites: 1

Brief Summary

Darier disease is a rare genetic skin disease caused by mutations in the ATP2A2 gene. Clinically, patients present with inflammatory and keratotic papules, sometimes erosive and oozing, predominating in seborrheic areas and folds. The lesions are very visible, causing itching and pain and a significant impairment of quality of life. Complications such as superinfections of the skin (bacterial and viral) are very common and sometimes severe. Therapeutically, treatments are mainly symptomatic and often of limited effectiveness, particularly on inflammation and pruritus. The main objective of this clinical study is to compare the microbiota of the epidermis of patients with Darier disease in non-lesional areas versus lesional areas , making it possible to identify bacteria/clusters of bacteria, but also to analyze the metabolic pathways of the microbiota associated with the microbial signature, until now not described. The secondary objectives envisaged are to study the correlation between this microbiotic profile and both the clinical characteristics of patients and the cytokine profile. The research will be performed on 40 patients aged 18 or over, suffering from moderate to severe Darier Disease. For each patient, several samples will be collected including biopsies, blood sample, swabbing and tape-stripping, on lesional and non-lesional areas.

Conditions

Darier Disease

Keywords

Darier disease; cytokine profil,; microbiome; proteomic analysis; targeting therapy

Outcome Measures

Primary Outcomes (1)

• Comparison of microbiotic profiles (genomes of microorganisms) in lesional and non-lesional areas.

  Shotgun Metagenome Sequencing is used to learn what genomes are present in the sample

  day 1

Secondary Outcomes (3)

• Characterization qualitatively and quantitatively, at the epidermis level, the cytokine profile of patients (lesional skin, non-lesional skin)

  Day 1

• Correlation between the microbiotic profile observed on the epidermis (lesional skin) and the clinical characteristics of patients

  Day 1

• Comparison of the cytokine profile in the lesional area vs. non-lesional area, from the dermis (from a biopsy) of patients.

  Day 1

Study Arms (1)

investigation : biopsy and blood extraction

EXPERIMENTAL

Procedure: skin biopsies and blood extraction

Interventions

skin biopsies and blood extraction PROCEDURE

Two 5 mm skin biopsies: lesional area and non-lesional area, on the trunk. * One blood sample (20 ml) to extract the plasma. * 15 successive tape-strippings in a lesional area. * Scans with two swabs: lesional area (preferably the trunk, 5 cm x 5 cm area) and non-lesional area.

investigation : biopsy and blood extraction

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Patients aged 18 or over,
• MD (clinical diagnosis),
• MD moderate to severe,
• Person affiliated or beneficiary of a social security scheme,

You may not qualify if:

• Other inflammatory dermatological diseases : atopic dermatitis, psoriasis and lichen planus,
• Skin superinfection (clinical diagnosis),
• Application of tacrolimus to the areas or to more than 30% of the body surface,

Sponsors & Collaborators

• University Hospital, Toulouse: lead
• Institut National de la Santé Et de la Recherche Médicale, France: collaborator

Study Sites (1)

University Hospital of Toulouse

Toulouse, Centre Hospitalier Universitaire de Toulouse, 31059, France

RECRUITING

MeSH Terms

Conditions

Darier Disease

Condition Hierarchy (Ancestors)

Skin Diseases, Genetic; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Keratosis; Skin Diseases; Skin and Connective Tissue Diseases

Study Officials

• Juliette Mazereeuw-hautier, MD

  University Hospital of Toulouse

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Nadège ALGANS, PM

CONTACT

0561777204; algans.n@chu-toulouse.fr

Hélène TEXIER-GERNE, PM

CONTACT

0567778180; texier.h@chu-toulouse.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: BASIC SCIENCE
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Model Details: Interventional study, exploratory, prospective, descriptive, bicentric.

Study Record Dates

• First Submitted: August 26, 2024
• First Posted: September 26, 2024
• Study Start: November 4, 2024
• Primary Completion: September 25, 2025
• Study Completion: September 25, 2025
• Last Updated: December 11, 2024

Record last verified: 2024-12

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)