Observational Study of Adolescents and Adults With Erythropoietic Protoporphyria and X-Linked Porphyria Evaluating Symptoms, Light Exposure, and Skin Reactions Over Six Months

What this Trial Is About

This research aims to collect detailed information about the effects of Erythropoietic Protoporphyria EPP and X-Linked Porphyria XLP in adolescents and adults. It is an observational study, meaning participants will not receive any treatment while researchers observe and record their symptoms and related health data. The study is conducted to better understand these rare conditions and how they affect participants over time. Participants will be involved in the study for up to 6 months, starting with a screening and a baseline visit on Day 1. After that, they will return every 4 weeks for follow-up visits through 24 weeks. During these visits, researchers will perform clinical laboratory tests, physical exams, vital sign measurements, and blood draws to measure protoporphyrin IX PPIX levels. Participants will also wear a light dosimetry device to monitor light exposure and complete daily diaries reporting their symptoms. Throughout the study, participants will be assessed for phototoxic symptoms, skin damage, and sunlight exposure required to trigger symptoms. Data collection includes clinical history, symptom timing, liver function tests, and light exposure records. The study team monitors participants health during each visit to understand the progression and impact of EPPXLP, with no treatment administered as part of this research.

Observational Study of Adults and Adolescents With Erythropoietic Protoporphyria (EPP) and X-linked Porphyria (XLP)