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

No results posted yet for this study

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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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01880983 on ClinicalTrials.gov