X-linked recessive disease

This early-stage study is testing whether quercetin, a natural antioxidant found in foods, is safe and can reduce inflammation in male patients with XIAP deficiency, a rare genetic immune disorder. Twelve participants will take oral quercetin daily. The main goals are to check fo…

This study investigates how the human eye focuses on objects of different colors. Healthy volunteers aged 18-35 with normal vision will view colored shapes on a screen that appear to jump in distance. A wavefront sensor measures how accurately and quickly the eye refocuses. The g…

This study aims to collect DNA samples and detailed eye exam data from 1,000 people with rare inherited eye diseases like aniridia, Best disease, and albinism. Participants provide a saliva or blood sample and share their eye health records. The goal is to expand a research repos…