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

NCT ID: NCT01880983

Last Updated: 2021-06-24

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 150 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2011-11-30
• Study Completion Date: 2020-12-31

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 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.

Conditions

Erythropoietic Protoporphyria (EPP)

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Eligibility Criteria

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 -

• Minimum Eligible Age: 7 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Porphyria Rare Disease Clinical Research Consortium

UNKNOWN

Sponsor Role: collaborator

University of Alabama at Birmingham

OTHER

Sponsor Role: lead

Responsible Party

Brendan McGuire

Principal Investigator

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Brendan McGuire, MD

Role: PRINCIPAL_INVESTIGATOR

The University of Alabama at Birmingham

Locations

The University of Alabama at Birmingham

Birmingham, Alabama, United States

Countries

United States

Other Identifiers

7202

Identifier Type: -

Identifier Source: org_study_id