View clinical trials related to Ichthyosis.
Filter by:The goal of this observational study is to understand the perspectives and needs of patients with genodermatoses and their partners who wish to have children, regarding their decision-making process and their consideration of reproductive options. Additionally, the investigators aim to investigate the level of knowledge and perspectives of healthcare professionals (such as clinical geneticists, dermatologists and other clinicians involved), and want to explore to what extent patients and their partners are well informed about these reproductive options. To achieve this, the investigators will conduct individual semi-structured qualitative interviews with participants affected by genodermatoses (and their partners) and with healthcare professionals.
The goal of this observational study is to learn about the presence of extracutaneous manifestations in patients with congenital ichthyosis. The main question it aims to answer is: - Do patients with congenital ichthyosis experience extracutaneous manifestations? Participants will fill in questionnaires in which the investigators will explore whether patients experience extracutaneous manifestations, and if so what these manifestations entail. Examples of such questions are whether patients experience (joint) pain or whether they experience hindrance due to their complaints.
The goal of this observational study is to conduct a prospective assessment of the individual Burden of 9 rare skin diseases to assess disability in the broadest sense of the term (psychological, social, economic and physical) for patients and/or families. Two types of indicators will be used to reach this objective : 1. an individual burden score calculated based on a burden questionnaire created specifically, approved and designed to understand the tendency to changes in care and lifestyles. The burden questionnaire should be used by patients and/or their family themselves in self-assessment. 2. a descriptive analysis of all resources (medical and non-medical) used by the family unit to manage the disease.
This will be a single-center, single-arm, non-interventional natural history study to evaluate the longitudinal clinical course, functional outcome measures, and candidate biomarkers for individuals with DNA repair disorders, including Cockayne syndrome (CS), xeroderma pigmentosum (XP), and trichothiodystrophy (TTD).
The CUV152 study will evaluate the safety of afamelanotide in XP-C and XP-V patients, as well as the drug's ability to assist reparative processes following ultraviolet (UV) provoked DNA damage of the skin. It will assess whether SCENESSE® increases the amount of UV light needed to cause DNA damage of skin cells, as well as the extent of skin repair before and after treatment.
The CUV156 study will evaluate the safety of afamelanotide in XP-C patients, as well as the drug's ability to assist reparative processes following ultraviolet (UV) provoked DNA damage of the skin. It will assess whether SCENESSE® increases the amount of UV light needed to cause DNA damage of skin cells, as well as the extent of skin repair before and after treatment.
This is an experimental non-randomized clinical study aimed at expanding the indications for the use of biological drugs with the aim of using them for the pathogenetic therapy of children with congenital ichthyosis.
Pro-inflammatory cytokines are critically important drivers of inflammatory and autoimmune diseases and cytokine-targeted biologics have been transformative in the treatment of several inflammatory and autoimmune diseases. As the diversity of approved cytokine-targeted biologic therapies grows, it will become increasingly important to stratify patients on the basis of specific genetic or disease biomarker phenotypes to ensure that patients receive the appropriate cytokine-targeted biologic, at the appropriate dose, and at the appropriate time. This project aims to explore patterns of pro-inflammatory cytokine/chemokine expression within normal versus (i) psoriatic, (ii) eczematic, (iii) ichthyotic human skin, as well as in human and mouse models of skin inflammation, with the objective of identifying cytokine response profiles ('cytokine fingerprints') that will provide a molecular basis for (a) the stratification of patients into disease subtypes that (b) enable cytokine-directed biologics to be targeted towards patients that are most likely to benefit from them. The investigators anticipate that 'cytokine fingerprinting' will aid in the selection of the most appropriate biologics in patients that are most likely to benefit from such therapies.
Presence/absence of subclinical keratoconus with corneal topographic abnormalities (skewed radial axes for forme fruste keratoconus, and inferior steepening for keratoconus suspect) on axial specular topography (TMS-4 Tomey), and elevation topographies: Pentacam (Oculus) and Orbscan (Bausch & Lomb).
Ichthyosis is a group of genetic skin disorders that present with dry, thickened, scaly, or flaky skin. As of today, there is no cure or treatment. Doctors can only treat the dry skin with different types of emollients to soften the scale. A deeper understanding of this disease is required to develop better treatments. There are different types of cells and cell-produced signals (biomarkers) that are being studied in order to help find these new treatments. Looking at biomarkers has been successful in helping us to understand other skin disorders better. The purpose of this study is to determine which blood and skin biomarkers characterize ichthyosis. Hypothesis: We predict that the biomarkers correlating with disease activity in Netherton syndrome will be different than the biomarkers found to correlate with the lamellar and other ichthyosis phenotype.