RecruitingNot Applicable

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

France40 participantsStarted 2024-11-04

Plain-language 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.

Who can participate

Age range

18 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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.

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

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

Timeframe: day 1

Trial details

NCT IDNCT06614777

SponsorUniversity Hospital, Toulouse

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2025-09-25

Contact for this trial

Nadège ALGANS, PM

0561777204 algans.n@chu-toulouse.fr

View on ClinicalTrials.gov More Darier Disease trials