Ichthyosis

This early-stage trial tests a new drug called BCX17725 in healthy volunteers and people with Netherton syndrome, a rare genetic skin condition. The study aims to check safety, how the drug moves through the body, and whether it can reduce skin redness and scaling. About 78 parti…

This study tests a lotion called QRX003 in people with Netherton Syndrome, a rare genetic skin condition. About 16 participants aged 4 and older will apply the lotion twice daily for 12 weeks. Researchers will check if it improves skin appearance and reduces itching.

This early-phase study is testing whether dupilumab, a drug already used for eczema, can reduce severe itching in people with various genetic skin disorders. The trial will enroll 30 participants and last 26 months, including a 16-week treatment period and a longer extension phas…

This study tests whether a series of three cream wraps can reduce skin discomfort in people with moderate to very severe hereditary ichthyosis. Participants will receive a therapeutic bath followed by application of a rich emollient cream and a plastic wrap for one hour. The main…

This study tests whether a probiotic called Saccharomyces boulardii can reduce symptoms of irritable bowel syndrome (IBS) in adults. About 406 people with non-constipated IBS will take either the probiotic or a placebo daily for 8 weeks. Researchers will measure changes in sympto…

This study follows people with SPLIS, a rare inherited metabolic condition, to map its natural history—how the disease unfolds over time. Researchers will track growth, organ function, quality of life, and survival in about 28 participants. The goal is to understand the full rang…

This study looks at the bacteria, fungi, and viruses living on the skin, in the gut, and in the mouth of people with Netherton syndrome, a rare condition that damages the skin barrier and often causes allergies. Researchers will compare these microbes to those of healthy voluntee…

This study aims to understand the full burden of 9 rare skin diseases—including physical, emotional, social, and financial challenges—on patients and their families. Researchers will use special questionnaires to track how these conditions affect daily life and care needs. About …