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Completed

NCT Number: NCT02979249

Oral Iron for 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.

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Key information

Conditions

Erythropoietic Protoporphyria Congenital, Hereditary, and Neonatal Diseases and Abnormalities Digestive System Diseases EPP Genetic Diseases, Inborn Liver Diseases Metabolic Diseases Nutritional and Metabolic Diseases Porphyrias Porphyrias, Hepatic Protoporphyria, Erythropoietic Protoporphyria, Erythropoietic, X-Linked Dominant Skin Diseases Skin Diseases, Genetic Skin and Connective Tissue Diseases X-Linked Protoporphyria XLP

Age range

18 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

University of Alabama, Birmingham, Birmingham, Alabama, United States

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About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

oral iron

Drug

for one year

Other names: Ferrous sulfate USP

Primary outcomes

  1. 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

Secondary outcomes

  1. 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.

Sponsors and collaborators

Lead sponsor

Icahn School of Medicine at Mount Sinai

Other

Collaborators

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

Registry information

Official study title

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

Acronym: EPP

Important dates

Study start
2016
Primary completion
2019
Study completion
2019
First posted
Dec 1, 2016
Registry last updated
Sep 11, 2020

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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