MedTrace Logo

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

NCT06614777 · Status: RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 40

Last updated 2024-12-11

No results posted yet for this 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.

Conditions

  • Darier Disease

Interventions

PROCEDURE

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.

Sponsors & Collaborators

  • Institut National de la Santé Et de la Recherche Médicale, France

    collaborator OTHER_GOV

  • University Hospital, Toulouse

    lead OTHER

Principal Investigators

  • Juliette Mazereeuw-hautier, MD · University Hospital of Toulouse

Study Design

Allocation
NA
Purpose
BASIC_SCIENCE
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2024-11-04
Primary Completion
2025-09-25
Completion
2025-09-25

Countries

  • France

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06614777 on ClinicalTrials.gov