Keratinization disease

This trial tests whether a bioactive glass material can effectively fill the mastoid bone after surgery for cholesteatoma, a non-cancerous but destructive ear growth. Adults having their first cholesteatoma operation will receive the glass filler to stabilize the repair and preve…

This early-stage trial tests an oral drug called KM-023 for Olmsted Syndrome, a rare genetic condition causing painful, thick skin on the palms and soles. First, healthy volunteers will receive single or multiple doses to check safety and how the body handles the drug. Then, pati…

This study looks at whether 3D-printed dentures fit better and make patients happier than traditional acrylic dentures in people with ectodermal dysplasia, a rare condition that affects teeth and other body parts. About 11 people aged 10 to 35 who have some remaining teeth will t…

This study looks at whether soaking hands in water for up to 20 minutes can be a simple screening tool for cystic fibrosis (CF) carrier status. Researchers will take photos of participants' hands and score the wrinkling, both by human observation and using a computer algorithm. T…

This study is building a large database of health information from 5,000 people with ALS and other motor neuron diseases. Participants share details like symptoms, test results, and disease progression during regular clinic visits. The de-identified data is then shared with resea…

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 …