Oral Iron for Erythropoietic Protoporphyrias (EPP)

Mount Sinai Health System

Status

Completed

Conditions

EPP

XLP

Erythropoietic Protoporphyria

X-linked Protoporphyria

Treatments

Drug: Oral Iron

Study type

Interventional

Funder types

Other

NIH

Identifiers

NCT02979249

GCO 08-0959-1001

U54DK083909 (U.S. NIH Grant/Contract)

Details and patient eligibility

About

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.

Full 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.

Enrollment

16 patients

Sex

All

Ages

18+ years old

Volunteers

No Healthy Volunteers

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