Oral Iron for Erythropoietic Protoporphyrias (EPP)

August 24, 2020 updated by: Manisha C Balwani, Icahn School of Medicine at Mount Sinai

Effect of Oral Iron Therapy on Erythrocyte Protoporphyrin Levels in the Erythropoietic Protoporphyrias

In the medical literature there are conflicting reports on whether iron improves symptoms in patients with EPP and XLP. Giving iron to people who are iron deficient is thought to improve EPP symptoms. However, this has never been systematically tested. Therefore, the purpose of this study is to determine the effect of oral iron for EPP and XLP patients.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Detailed Description

This is a clinical trial, which means its purpose is to study an intervention or treatment. In this study all patients with EPP or XLP will be given a standard dose of iron pills and monitored for one year. There is currently no effective Food and Drug Administration (FDA) approved treatment for EPP or XLP in the US. Giving iron to patients with low ferritin (a measure of body iron stores) levels may help improve their EPP symptoms by decreasing erythrocyte protoporphyrin levels.

Patients will be asked come to the study site once every three months over the course of a year for a total of five visits. At these visits the study doctors will check in with participants and some blood and urine samples will be taken. Participants will not be charged for any of the lab tests that are being done for part of this study alone. In between these study visits there will be phone call to check in and see how participants are doing. All patients in this study will receive iron pills at no cost to them.

Study Type

Interventional

Enrollment (Actual)

16

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Alabama
      • Birmingham, Alabama, United States, 35294
        • University of Alabama, Birmingham
    • California
      • San Francisco, California, United States, 94143
        • University of California
    • New York
      • New York, New York, United States, 10029
        • Icahn School of Medicine at Mount Sinai
    • North Carolina
      • Winston-Salem, North Carolina, United States, 27106
        • Wake Forest University Health Sciences
    • Texas
      • Galveston, Texas, United States, 77555
        • University of Texas Medical Branch
    • Utah
      • Salt Lake City, Utah, United States, 84132
        • University of Utah

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

Inclusion Criteria:

  • Enrollment in the Longitudinal Study of the Porphyrias
  • Male or female age ≥18 years
  • History of nonblistering cutaneous photosensitivity
  • Biochemical findings - A marked increase in erythrocyte protoporphyrin (total erythrocyte protoporphyrin >400 ug/dL) with a predominance of metal-free protoporphyrin
  • Serum ferritin ≤30 ng/mL at baseline
  • Able to tolerate oral iron

Exclusion Criteria:

  • History of liver or bone marrow transplant or clinically significant liver dysfunction as determined by the investigator
  • Known or suspected allergy to oral iron based on patient report
  • Clinical evidence of active and ongoing GI bleeding
  • Use of any other clinical or experimental therapy in the past 3 months
  • Individuals with elevations of porphyrins in plasma or erythrocytes due to other diseases (i.e. secondary porphyrinemia) such as liver and bone marrow diseases
  • Patients with any clinically significant comorbid conditions, which in the opinion of the investigator, precludes participation

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Treatment
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: Oral Iron
standard dose of iron pills
Drug: Oral Iron
for one year
Other Names:
  • Ferrous sulfate USP

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Change in Erythrocyte Protoporphyrin Levels
Time Frame: Baseline and at 12 months
Relative difference in erythrocyte protoporphyrin levels between baseline and 12 months after treatment
Baseline and at 12 months

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Mean Change in EPP-specific Quality of Life Questionnaire
Time Frame: Baseline and 12 months
Quality of life tool designed to capture the specific issues that patients with EPP experience. Score range is 0-100, higher scores represent higher levels or satisfaction, lower scores represent more impacted quality of life. Mean change at 12 months as compared to baseline.
Baseline and 12 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Icahn School of Medicine at Mount Sinai

Collaborators

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Investigators

  • Study Chair: Manisha Balwani, MD, MS, Icahn School of Medicine at Mount Sinai

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

December 1, 2016

Primary Completion (Actual)

July 19, 2019

Study Completion (Actual)

July 19, 2019

Study Registration Dates

First Submitted

November 29, 2016

First Submitted That Met QC Criteria

November 30, 2016

First Posted (Estimate)

December 1, 2016

Study Record Updates

Last Update Posted (Actual)

September 11, 2020

Last Update Submitted That Met QC Criteria

August 24, 2020

Last Verified

August 1, 2020

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • GCO 08-0959-1001
  • U54DK083909 (U.S. NIH Grant/Contract)

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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