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

Erythropoietic Protoporphyria (EPP) Clinical Trial

Official title:

7202 Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC)

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01880983
• Other study ID #: 7202
• Status: Completed
• Start date: November 2011
• Est. completion date: December 31, 2020

Study information

• Verified date: June 2021
• Source: University of Alabama at Birmingham
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Description:

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 150
• Est. completion date: December 31, 2020
• Est. primary completion date: December 31, 2020
• Accepts healthy volunteers: No
• Gender: All
• Age group: 7 Years and older

Eligibility

Inclusion Criteria:

1. Enrollment in the Longitudinal Study of the Porphyrias with a diagnosis of EPP

2. An individual or parent/guardian who is able to give written informed consent or assent, as appropriate -

Exclusion Criteria:

1. Patient is not enrolled in the Longitudinal Study of the Porphyrias

2. Patient is under the age of 7

3. Patient is cognitively impaired

4. Patient refuses to have blood drawn for establishing lymphoblast line -

Related Conditions & MeSH terms

• Erythropoietic Protoporphyria (EPP)
• Porphyria, Erythropoietic
• Porphyrias
• Rare Diseases

Locations

Country	Name	City	State
United States	The University of Alabama at Birmingham	Birmingham	Alabama

Sponsors (2)

Lead Sponsor	Collaborator
University of Alabama at Birmingham	Porphyria Rare Disease Clinical Research Consortium

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Mitoferrin-1 expression	To determine if abnormal mitoferrin-1 (MFRN1) expression contributes to the phenotype of individuals with the genetic/metabolic disorder EPP.	once at study enrollment