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

NCT06614777 · tracked via the Priya Life Science France tracker

Sponsor

University Hospital, Toulouse

Phase

Not applicable

Started

2024-11-04

Last updated

2024-12-11

Condition(s) studied

Darier Disease

Investigational drug(s) / intervention(s)

skin biopsies and blood extraction

skin biopsies and blood extraction: 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.

Study 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.

Eligibility

Sex

ALL

Min age

18 Years

Max age

—

Healthy volunteers

Inclusion Criteria: * Patients aged 18 or over, * MD (clinical diagnosis), * MD moderate to severe, * Person affiliated or beneficiary of a social security scheme, * Free, informed and written consent signed by the participant and the investigator (at the latest on the day of inclusion and before any examination required by the research). Exclusion Criteria: * Other inflammatory dermatological diseases : atopic dermatitis, psoriasis and lichen planus, * Skin superinfection (clinical diagnosis), * Treatment with a biotherapy, in progress or in the 12 weeks preceding inclusion, * Treatment with oral retinoids introduced in the 6 months preceding inclusion, * Application of tacrolimus to the areas or to more than 30% of the body surface, * Application of topical corticosteroids to the areas or to more than 30% of the body surface, within 2 weeks preceding inclusion, * Oral corticosteroid therapy in the 2 weeks preceding inclusion, * Application of topical retinoids to the areas in the 2 weeks prior to inclusion, * Oral and/or topical antibiotic therapy in the 2 weeks preceding inclusion, * Local antiseptic in the 2 weeks preceding inclusion, * Local keratolytics on areas within 5 days preceding inclusion.

Primary outcome measure(s)

Comparison of microbiotic profiles (genomes of microorganisms) in lesional and non-lesional areas. — day 1
Shotgun Metagenome Sequencing is used to learn what genomes are present in the sample

Trial sites (1)

Facility	City	Region	Status
University Hospital of Toulouse	Toulouse	Centre Hospitalier Universitaire de Toulouse	Recruiting

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Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT06614777 on ClinicalTrials.gov ↗ ← All trials in France