Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC))
NCT01880983 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 150
Last updated 2021-06-24
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.
Conditions
- Erythropoietic Protoporphyria (EPP)
Sponsors & Collaborators
-
Porphyria Rare Disease Clinical Research Consortium
collaborator UNKNOWN -
University of Alabama at Birmingham
lead OTHER
Principal Investigators
-
Brendan McGuire, MD · The University of Alabama at Birmingham
Eligibility
- Min Age
- 7 Years
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2011-11-30
- Primary Completion
- 2020-12-31
- Completion
- 2020-12-31
Countries
- United States
Study Locations
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