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.

Detailed Summary:

This study examines the possibility that abnormal expression of the gene mitoferrin-1, which codes for the protein that transports iron in the mitochondria of cells, is a contributing factor to the phenotype in individuals with EPP.

Erythropoietic protoporphyria (EPP) is a human genetic/metabolic disorder in which accumulation of the compound protoporphyrin causes skin sensitivity to sunlight. Some individuals with the disorder also have mild anemia, and a few have hepatobiliary disease. Iron is joined to protoporphyrin to form heme in the mitochondria of cells, under control of the enzyme ferrochelatase. Defects in this process cause the accumulation of protoporphyrin, leading to the biochemical and clinical features of EPP. Abnormalities in the ferrochelatase gene are the major cause of the defect, but do not satisfactorily explain the severity of the phenotype in all subjects. Mitoferrin-1 transports iron to ferrochelatase in the mitochondria of cells for heme formation, and also transports iron for the formation of a compound that keeps ferrochelatase active and stable. Thus, a deficiency of this iron transporter could reduce ferrochelatase activity and contribute to the phenotype in EPP.

Sponsor: University of Alabama at Birmingham

Current Primary Outcome: Mitoferrin-1 expression [ Time Frame: once at study enrollment ]

Original Primary Outcome: Same as current

Current Secondary Outcome:

Original Secondary Outcome:

Information By: University of Alabama at Birmingham

Dates:
Date Received: June 17, 2013
Date Started: November 2011
Date Completion: December 2017
Last Updated: March 17, 2017
Last Verified: March 2017