Darier Disease Clinical Trials 2026 — Find Recruiting Studies

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 back Malodour due to secondary bacterial colonisation within keratotic skin folds Characteristic nail changes: longitudinal red and white streaks (subungual keratosis) with V-shaped notching at the free edge Palmoplantar punctate keratoses and pits Oral and genital mucous membrane involvement with cobblestone papules Photosensitivity with marked worsening of skin lesions following UV exposure Rare but recognised neuropsychiatric associations including bipolar disorder and epilepsy in some families

Clinical Trial Eligibility Tips

What to know before applying to Darier Disease trials.

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.