View clinical trials related to Netherton Syndrome.
Filter by:Netherton Syndrome (NS) is a severe rare disease characterized by generalized scaling, erythema, and epidermal barrier defects. This study assessed the safety, pharmacokinetics (PK), and efficacy of DS-2325a in patients with NS.
This study is open to people with a skin disease called Netherton syndrome (NS). People can join the study if they are 12 years and older. The purpose of this study is to find out whether a medicine called spesolimab helps people with NS. Participants are divided into a spesolimab and a placebo group. Placebo injections look like spesolimab injections but do not contain any medicine. Every participant has a 2 in 3 chance of being in the spesolimab group. In the beginning, participants get the study medicine as an injection into a vein. Afterwards, they get it as an injection under the skin every month. After 4 months, participants in the placebo group switch to spesolimab treatment. Participants are in the study for about 1 year. During this time, they visit the study site 16 times. Where possible, 4 of 16 visits can be done at the participant's home instead of the study site. The doctors regularly check participants' NS symptoms. The results are compared between the groups to see whether spesolimab works. The doctors also regularly check participants' general health and take note of any unwanted effects.
To assess the safety, tolerability, and efficacy of QRX003 lotion (4%) when added to standard of care treatment regimen, including systemic therapy in subjects with Netherton syndrome
This study has been designed to determine the safety, tolerability and efficacy of QRX003 lotion 2%, 4% QAM or 4% BID in subjects with Netherton Syndrome (NS) in comparison to vehicle
In this phase I/II trial a topical skin cream with the active substance SXR1096 will be tested in patients with Netherton syndroms, a rare inflammatory skin disease. SXR1096 is a specific and potent protease inhibitor that can inhibit the proteases kallikrein 5, 7 and 14 - all recognised as up-regulated and causing the disease state in Netherton syndrome patients. Patients will be treated for one month with active cream and placebo cream at different areas of the skin.
To date, there are no effective therapy for the management of Netherton Syndrome (NS) Patients use emollients with a limited efficacy on scaling and no efficacy on skin inflammation and pruritus. They may also use topical corticosteroids or calcineurin inhibitors in case of eczematous lesions. The use of therapies targeting skin inflammation has been reported in a few case reports. Their efficacy is very limited and their uses are limited because of the chronicity of the disease, the impaired skin barrier function and the risk for skin infections and skin cancers. Therefore, there is a huge medical need for novel therapies in NS.The expected consequences of this study are that a 16-week course of dupilumab will be more effective than placebo for the treatment of moderate to severe NS Dupilumab could therefore improve skin condition and quality of life.
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.
This study aims at studying the natural history of Netherton syndrome (NS), to identify the consequences of LEKTI deficiency on the immune system and to characterize new molecular mechanisms involved in the disease.
Netherton Syndrome is a serious skin disorder caused by damage in a gene called SPINK5. This gene controls the formation of a protein called LEKTI, which important for skin barrier function. LEKTI inhibits certain enzymes (serine proteinases) in the outermost layer of the skin (epidermis). The function of the serine proteinases is to break down the intracellular cement that holds together the horny cells in the epidermis, in order for the skin to be able to shed cells (known as cell desquamation). LEKTI deficiency leads to an uninhibited desquamation of horny cells, and as a result the skin becomes red and scaly. The barrier function of the skin is also affected. The permeability of the skin increases, and its capacity to bind water decreases, which causes dryness. The thinness of the barrier also results in over absorption of chemicals, for example topical medical treatments. Historically one in ten infants dies before their first birthday. Currently there are no proven treatments to cure this condition. The investigators have been developing a gene therapy approach to treat this disorder. The investigators have used a disabled virus (vector) to carry a functional copy of the SPINK5 gene into skin stem cells. Proof-of-principle experiments have shown the investigators can restore almost normal shape and size of the upper layer of the skin in skin grafts grown in the lab. Even if only a small number of cells are genetically modified to carry the corrected SPINK5 gene, there seems to be a correction over a wide area of the graft. In this trial the investigators propose grafting of autologous epidermal sheets generated from genetically modified skin stem cells for the treatment of patients with Netherton Syndrome. The investigators anticipate production and release of LEKTI protein from even a small patch of skin will be beneficial.