Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC))
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.
Erythropoietic Protoporphyria (EPP)
|Study Design:||Observational Model: Cohort
Time Perspective: Prospective
|Official Title:||7202 Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC)|
- Mitoferrin-1 expression [ Time Frame: once at study enrollment ] [ Designated as safety issue: No ]To determine if abnormal mitoferrin-1 (MFRN1) expression contributes to the phenotype of individuals with the genetic/metabolic disorder EPP.
Biospecimen Retention: Samples With DNA
whole blood for lymphoblast transformation
|Study Start Date:||November 2011|
|Estimated Study Completion Date:||December 2016|
|Estimated Primary Completion Date:||December 2016 (Final data collection date for primary outcome measure)|
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.
|Contact: Toni Seayemail@example.com|
|United States, Alabama|
|The University of Alabama at Birmingham||Recruiting|
|Birmingham, Alabama, United States, 35294|
|Contact: Toni Seay 205-934-7332 firstname.lastname@example.org|
|Principal Investigator: Joseph Bloomer, MD|
|Principal Investigator:||Joseph Bloomer, MD||The University of Alabama at Birmingham|