- Erythropoietic Protoporphyria (EPP)
- X-Linked Protoporphyria (XLP)
In the medical literature, there are conflicting reports on whether iron improves symptoms in patients with EPP or 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 on EPP and XLP patients.
The research aims are:
- To determine if oral iron can decrease erythrocyte protoporphyrin levels in patients with EPP or XLP
- To assess whether oral iron can improve iron status and decrease plasma porphyrin levels and symptoms in patients with EPP or XLP
- To assess if there is an improvement in the quality of life in treated patients
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.
Participants will be asked come to the study site once every three months over the course of one year for a total of five visits. At these visits the study doctors will check in with the participant and some blood and urine samples will be taken. Participants will not be charged for any of the lab tests that are being done as a part of this study alone. In between each study visit, there will be one phone call to check in and see how each participant is doing. All patients in this study will receive iron pills at no cost to them.
To be eligible to participate, you must:
- Be enrolled in the Longitudinal Study of the Porphyrias
- Have a biochemical diagnosis of erythropoietic protoporphyria (EPP) or X-Linked Protoporphyria (XLP)
- Be at least 18 years old
- Have a serum ferritin level of less than or equal to 30 ng/mL
You are not eligible to participate if you have:
- Had a liver or bone marrow transplant, or have significant liver disease determined by the study doctor
- A known or suspected allergy to oral iron
- Used any other clinical or experimental therapy in the past 3 months
- Another disease or condition that the study doctors judge would interfere with the study
In order to participate in a study, you must personally contact the study coordinator of the participating institution closest to you by phone or e-mail. Please use the information below to inquire about participation.
University of Alabama at Birmingham
Rakesha Garner, Coordinator
University of California at San Francisco
Yuvraaj Kapoor, Coordinator
Ichan School of Medicine at Mount Sinai, New York
Hetanshi Naik, Project Manager
Wake Forest School of Medicine, Winston-Salem
Dee Faust, Coordinator
University of Texas Medical Branch, Galveston
Csilla Hallberg, MD, Coordinator
University of Utah, Salt Lake City
Sharada Dixit, Study Coordinator