Clinical Research Directory

FARD (RaDiCo Cohort) (RaDiCo-FARD)

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.

Thera-Clean® Microbubbles System in Patients With Skin Diseases

Thera-Clean® Microbubble has proved to improve skin conditions in animals, however little research has been done regarding human subjects. Microbubble technology is a chemical-free therapeutic aimed at clearing foreign and organic matter from hair follicles, eliminating odors, and reducing itch. This hydrotherapy is said to aid in the healing process of inflamed and distressed tissue, relieve pain, and serve to remove contaminated tissue. This study will evaluate the change in skin conditions from the use of Thera-Clean® Microbubble for cleansing and debriding wounds from selected subjects focused on patients with inflammatory skin disease (epidermolysis bullosa, ichthyosis, atopic dermatitis and/or psoriasis). Proper wound care to prevent infection is vitally important for these patients and the options of therapeutics are limited. This study will evaluate the change in skin conditions from the use of Thera-Clean® Microbubble for cleansing and debriding lesional skin.

A 44-week Monocentric Open Study Assessing the Efficacy and Safety of Deucravacitinib in Adults With Inflammatory Genodermatoses

The goal of this clinical trial is to learn about deucravacitinib treatment in adults with inflammatory epidermal genodermatoses . The main question it aims to answer are: describe efficacity and safety of this treatment. Participants will take treatments and have to use bullets during the study period.

Qualitative Study in Patients With Genodermatoses and Healthcare Professionals on Reproductive Counselling

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.

Reproductive Options in Inherited Skin Diseases

The goal of this observational study is to learn about the indications for prenatal diagnostics and preimplantation genetic testing for patients/couples affected by an inherited skin disease, and evaluate the clinical outcomes of these reproductive options. By providing a complete overview, the investigators aim to improve reproductive counselling for these patients/couples with a desire to have children. To achieve this, the investigators aim to retrospectively collect data from a cohort of patiens/couples affected by an inherited skin disease on a national level (in the Netherlands) and also an international level from various countries in Europe.

Defining the Skin and Blood Biomarkers of Ichthyosis

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.

Efficacy of Injectable Gentamicin in Hereditary Ichthyosis

This study will evaluate the efficacy and safety of intravenous gentamicin in congenital ichthyosis due to a non-sens mutation. The primary objective is the severity of scales and erythema at the third month, compared to baseline. Secondary objectives will include: the importance of itching, trans epidermal water loss, cutaneous expression of the targeted protein, the security of the drug and patients' satisfaction.