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 is for people with erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP), rare conditions that cause severe pain and skin reactions to sunlight. The purpose is to check the long-term safety of an oral medication called dersimelagon. About 301 participant…

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…