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

This study is ongoing, but not recruiting participants.
Sponsor:
ClinicalTrials.gov Identifier:
NCT01880983
First Posted: June 19, 2013
Last Update Posted: March 21, 2017
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
Collaborator:
Porphyria Rare Disease Clinical Research Consortium
Information provided by (Responsible Party):
Joseph Bloomer, University of Alabama at Birmingham
  Purpose
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.

Condition
Erythropoietic Protoporphyria (EPP)

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: 7202 Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC)

Resource links provided by NLM:


Further study details as provided by Joseph Bloomer, University of Alabama at Birmingham:

Primary Outcome Measures:
  • Mitoferrin-1 expression [ Time Frame: once at study enrollment ]
    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

Estimated Enrollment: 150
Study Start Date: November 2011
Estimated Study Completion Date: December 2017
Estimated Primary Completion Date: December 2017 (Final data collection date for primary outcome measure)
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.

  Eligibility

Information from the National Library of Medicine

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Ages Eligible for Study:   7 Years and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Erythropoietic Protoporphyria
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 -
  Contacts and Locations
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01880983


Locations
United States, Alabama
The University of Alabama at Birmingham
Birmingham, Alabama, United States, 35294
Sponsors and Collaborators
University of Alabama at Birmingham
Porphyria Rare Disease Clinical Research Consortium
Investigators
Principal Investigator: Joseph Bloomer, MD The University of Alabama at Birmingham
  More Information

Responsible Party: Joseph Bloomer, Principal Investigator, University of Alabama at Birmingham
ClinicalTrials.gov Identifier: NCT01880983     History of Changes
Other Study ID Numbers: 7202
First Submitted: June 17, 2013
First Posted: June 19, 2013
Last Update Posted: March 21, 2017
Last Verified: March 2017

Keywords provided by Joseph Bloomer, University of Alabama at Birmingham:
EPP
Bloomer
Porphyria

Additional relevant MeSH terms:
Porphyrias
Porphyria, Erythropoietic
Porphyrias, Hepatic
Rare Diseases
Protoporphyria, Erythropoietic
Disease Attributes
Pathologic Processes
Metabolic Diseases
Skin Diseases, Genetic
Genetic Diseases, Inborn
Skin Diseases
Liver Diseases
Digestive System Diseases