Status:
COMPLETED
Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC))
Lead Sponsor:
University of Alabama at Birmingham
Collaborating Sponsors:
Porphyria Rare Disease Clinical Research Consortium
Conditions:
Erythropoietic Protoporphyria (EPP)
Eligibility:
All Genders
7+ years
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 diseas...
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 ph...
Eligibility Criteria
Inclusion
- 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 -
Exclusion
- 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 -
Key Trial Info
Start Date :
November 1 2011
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
December 31 2020
Estimated Enrollment :
150 Patients enrolled
Trial Details
Trial ID
NCT01880983
Start Date
November 1 2011
End Date
December 31 2020
Last Update
June 24 2021
Active Locations (1)
Enter a location and click search to find clinical trials sorted by distance.
1
The University of Alabama at Birmingham
Birmingham, Alabama, United States, 35294