Studying the Skin Microbiome and Immune Signals in Adults with Moderate to Severe Darier Disease to Explore New Treatment Options

What this Trial Is About

Darier disease is a rare genetic skin condition caused by mutations in the ATP2A2 gene, leading to inflammatory and keratotic skin lesions that are often itchy and painful. These lesions mainly appear in oily skin areas and folds, significantly affecting patients quality of life. The disease frequently results in skin infections and inflammation, with current treatments mostly providing symptomatic relief and limited effects on inflammation and itching. This research aims to compare the skin microbiota in affected versus unaffected areas in patients with moderate to severe Darier disease and to explore associated cytokine profiles and their relationship with clinical features. The study involves 40 adults with moderate to severe Darier disease. Participants will undergo procedures including two 5 mm skin biopsies from both lesional and non-lesional trunk areas, a 20 ml blood sample for plasma extraction, tape-stripping of lesional skin, and swabbing of both lesional and non-lesional skin areas. These samples will help characterize microbiotic and cytokine profiles and assess their links to disease severity. All assessments occur on the first day of study participation. Participants will provide skin and blood samples during a single visit where researchers will analyze microbial genomes, cytokine levels in the skin, and correlations with clinical features. The primary outcome is the comparison of microbiotic profiles between affected and unaffected areas. Secondary outcomes include detailed cytokine characterization and associations with patient symptoms. The study is sponsored by the University Hospital in Toulouse and is expected to complete by September 2025.

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