20 results
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…
Primary objectives:1. To analyze the exact pathogenic mutations in the TCOF1 gene in TCS 2. To determine the severity, prevalence, natural course within the cohort TCS patients and potential metabolic and physical effects of OSAS in TCSSecondary…
UMC Groningen part of research: to recruit patients with Dystrophic Epidermolysis Bullosa, in order to harvest keratinocytes for defining several characteristics of the EB population: antibodies to type VII collagen, presence of type VII NC1 domain…
The overall objective of this study is gaining insight into needs and options for psychological treatment of parents and their children with EB with regard to problems related to wound care.Specific objectives are: 1. To examine coping strategies of…
To evaluate and obtain insight into psychological, social and moral factors in thoughts and attitudes of pregnant women and their partners carrying a fetus with an isolated CL ± P in order to improve counseling.
To contribute to completion of the psychometric development of the Cleft Q
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…
Primary objective is to determine the actual occurrence of and risk factors for OCD on the hands of Dutch construction workers.With these new insights into the risk factors for OCD, we aim to develop 1) a new diagnostic tool to be used by…
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…
To elucidate the molecular basis of skin disease.
The primary objective of the study is to descriptively characterize the single-dose and steadystatePharmacokinetics (PK) of diacerein (if quantifiable) and its active metabolite, rhein, after topical application of CCP-020 (diacerein 1% ointment)…
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):…
- To assess the effect of QBW251 on the pharmacokinetics of a monophasic combined oral contraceptive containing 30 µg ethinyl estradiol (EE) and 150 µg levonorgestrel (LVG).- To assess the effect of QBW251 on the pharmacodynamics of a monophasic…
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…
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…
We aim to provide preliminary information on the presence of GNAQ, GNA11, RASA1 or PIK3CA gene mutations, assess the endothelial cell properties and compare it to the phenotypic characteristics of the PWSs of affected patients. This will lead to a…
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…
To assess clinical improvement of skin severity in patients with ichthyosis
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…
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.