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Epigenetic biomarkers to predict psoriasis disease progression * towards tailored therapy.

Primary Objective: To define a top set of genes that most reliably (r >=0.95) distinguish psoriasis from normal skin. We will define this set from differential methylation genes to indicate potential biomarkers.Secondary Objective(s):…

Auto-antibodies in patients with epidermolysis bullosa and revertant mosaicism

1. To determine if auto-antibodies against the re-expressed protein exist in the peripheral circulation in patients with EB and revertant mosaicism and compare this incidence to the group of patients with EB and without revertant mosaicism. 2. To…

Genetic susceptibility and skin irritability

Primary Objective: 1) We want to investigate whether carriers of FLG-null mutations show higher responses to exposure to the skin irritant SLS than non-carriers.2) Furthermore, we want to investigate whether carriers of mutations in the genes coding…

Suction blisters: induction time and level of blister formation in the skin

With this study we want to validate the negative pressure instrument which can make suction blisters, so in the future it can be used for other purposes. It can be helpfull to study the effects of medication or other treatments on blister formation…

The skin microbiome in X-linked recessive ichthyosis and autosomal recessive congenital ichthyosis

Primary Objective:Our main objective is to analyse if the microbiota composition of the affected skin is different from the non-affected skin in XRI and ARCI. Secondary Objectives:(1) To investigate the composition of the skin microbiota of patients…

Expression of hSPCA1 and ultrastructural analysis of the skin before and after laser therapy in Hailey-Hailey disease

We aim to (1) study the expression of hSPCA1 in keratinocytes before and after laser therapy and (2) verify the loss of acantholysis by immunohistochemistry and electron microscopy of cell-cell adhesions before and after laser therapy.

A Multicenter, Randomized, Double blind, Vehicle-controlled, Phase 3 Efficacy and Safety Study of Patidegib Topical Gel, 2%, for the Reduction of Disease Burden of Persistently Developing Basal Cell Carcinomas (BCCs) in Subjects with Basal Cell Nevus Syndrome

Primary Objective:To assess the number of new BCCs in the 2 arms (Patidegib Topical Gel, 2%, and Vehicle (placebo)) when applied twice daily to the face of subjects with Gorlin Syndrome.Secondary Objective:To assess the safety and tolerability of…

Transvamix (10% THC / 5% CBD) to treat chronic pain in Epidermolysis Bullosa: An explorative randomized, placebo-controlled and double-blind intervention crossover study

The primary objective is to determine the effect of Transvamix on the pain quality item *unpleasantness*, relative to placebo. Secondary objectives include the assessment of general pain qualities, pain self-efficacy, general pain and pruritus…

A Phase II, double-blind, placebo-controlled, randomized, cross-over, dose-ranging study of oral PHA-022121 for acute treatment of angioedema attacks in patients with hereditary angioedema due to C1-inhibitor deficiency type I and II

The purpose of this study is to find out how safe and effective the new drug PHA-022121 is for the treatment of Hereditary Angioedema. The main purpose of this research study is to test the effectiveness of 3 different doses of PHA-022121 in…