Clinical Trial: Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC))

Study Status: Active, not recruiting
Recruit Status: Active, not recruiting
Study Type: Observational




Official Title: 7202 Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC)

Brief Summary: The purpose of this study is to identify the biochemical/genetic defects in erythropoietic protoporphyria (EPP). People with EPP have skin sensitivity to sunlight and occasionally develop liver disease. In this study, the investigators hope to learn the nature of the biochemical/genetic defects in EPP because this may help explain the severity of these clinical features.