RecruitingNot applicableNCT06614777
Dermatological
Darier Disease
Also known as Darier-White disease, keratosis follicularis, ATP2A2 mutation
Darier disease is an autosomal dominant genodermatosis caused by pathogenic variants in ATP2A2, encoding the sarco/endoplasmic reticulum calcium ATPase 2 (SERCA2). Loss of SERCA2 function disrupts intracellular calcium homeostasis in kerati
ORPHA:218 ↗Gene ATP2A2Prevalence 1 in 30,000–100,000Onset Adolescence (typically 2nd decade)Autosomal dominant
1
studies recruiting now
as of 7 Sept 2026
5
studies registered in total
as of 7 Sept 2026
1
countries with a recruiting site
as of 7 Sept 2026
26 Sept 2024
most recent study posted
among recruiting studies
Recruiting trials
Showing the 1 most recently updated recruiting study, as recorded 7 Sept 2026. Live status on each study page.
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About Darier Disease
Darier disease is an autosomal dominant genodermatosis caused by pathogenic variants in ATP2A2, encoding the sarco/endoplasmic reticulum calcium ATPase 2 (SERCA2). Loss of SERCA2 function disrupts intracellular calcium homeostasis in keratinocytes, impairing desmosomal adhesion and leading to characteristic acantholysis and abnormal keratinisation. The condition manifests as greasy, hyperkeratotic, malodorous papules in seborrhoeic distribution areas, with nail abnormalities and mucous membrane involvement, and is frequently exacerbated by ultraviolet light, heat, and emotional stress.
Common clinical features
Greasy, hyperkeratotic, yellow-brown papules and plaques in seborrhoeic areas: scalp, face, chest, and backMalodour due to secondary bacterial colonisation within keratotic skin foldsCharacteristic nail changes: longitudinal red and white streaks (subungual keratosis) with V-shaped notching at the free edgePalmoplantar punctate keratoses and pitsOral and genital mucous membrane involvement with cobblestone papulesPhotosensitivity with marked worsening of skin lesions following UV exposureRare but recognised neuropsychiatric associations including bipolar disorder and epilepsy in some families
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Darier Disease. Not eligibility rules; those are set by each study.
- Genetic confirmation via ATP2A2 sequencing is typically required for trial enrolment; if not already tested, request next-generation sequencing of the gene through a dermatology genetics service.
- Systemic retinoids (acitretin, isotretinoin) are a common standard treatment and many trials mandate washout periods of 4–8 weeks; plan medication discontinuation in advance of screening.
- UV exposure severity grading and photosensitivity documentation are often part of baseline eligibility assessments — keep a log of flare triggers and severity to support accurate characterisation.
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).