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

NCT01880983 | Completed

• 1 other identifier: 7202
• Study Type: observational
• Target: 150
• Locations: 1 country
• Sites: 1

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.

Conditions

Erythropoietic Protoporphyria (EPP)

Keywords

EPP; Bloomer; Porphyria

Outcome Measures

Primary Outcomes (1)

• 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

Eligibility Criteria

• Age: 7 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Erythropoietic Protoporphyria

You may qualify if:

• 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 -

You may not qualify if:

• 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 -

Sponsors & Collaborators

• University of Alabama at Birmingham: lead
• Porphyria Rare Disease Clinical Research Consortium: collaborator

Study Sites (1)

The University of Alabama at Birmingham

Birmingham, Alabama, 35294, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

whole blood for lymphoblast transformation

MeSH Terms

Conditions

Protoporphyria, Erythropoietic; Porphyrias

Condition Hierarchy (Ancestors)

Porphyrias, Hepatic; Liver Diseases; Digestive System Diseases; Skin Diseases, Genetic; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin Diseases; Skin and Connective Tissue Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Brendan McGuire, MD

  The University of Alabama at Birmingham

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: June 17, 2013
• First Posted: June 19, 2013
• Study Start: November 1, 2011
• Primary Completion: December 31, 2020
• Study Completion: December 31, 2020
• Last Updated: June 24, 2021

Record last verified: 2021-06

Locations

US (1)