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

Completed

Conditions studied: Erythropoietic Protoporphyria (EPP)

In brief

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.

Key facts

Study ID

NCT01880983

Run by

University of Alabama at Birmingham

People needed

150

Starts

2011-11-01

Expected to finish

2020-12-31

Last updated by the study team

2021-06-24

Who can join

Age: 7 and older. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Enrollment in the Longitudinal Study of the Porphyrias with a diagnosis of EPP
• An individual or parent/guardian who is able to give written informed consent or assent, as appropriate -

You may not qualify if…

• Patient is not enrolled in the Longitudinal Study of the Porphyrias
• Patient is under the age of 7
• Patient is cognitively impaired
• Patient refuses to have blood drawn for establishing lymphoblast line -

Where it is running

• The University of Alabama at Birmingham — Birmingham, Alabama, United States

Full record on ClinicalTrials.gov

Trial information comes from ClinicalTrials.gov and is refreshed daily. TrialsForMe does not provide medical care and does not run the studies it lists.