Oral Iron for Erythropoietic Protoporphyrias

Erythropoietic Protoporphyria Clinical Trial

— EPP  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02979249
• Other study ID #: GCO 08-0959-1001
• Secondary ID: U54DK083909
• Status: Completed
• Phase: N/A
• Start date: December 2016
• Est. completion date: July 19, 2019

Study information

• Verified date: August 2020
• Source: Icahn School of Medicine at Mount Sinai
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial Summary

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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 16
• Est. completion date: July 19, 2019
• Est. primary completion date: July 19, 2019
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• EPP
• Erythropoietic Protoporphyria
• X-linked Protoporphyria
• XLP

Intervention

Drug:
• Oral Iron
for one year

Locations

Country	Name	City	State
United States	University of Alabama, Birmingham	Birmingham	Alabama
United States	University of Texas Medical Branch	Galveston	Texas
United States	Icahn School of Medicine at Mount Sinai	New York	New York
United States	University of Utah	Salt Lake City	Utah
United States	University of California	San Francisco	California
United States	Wake Forest University Health Sciences	Winston-Salem	North Carolina

Sponsors (2)

Lead Sponsor	Collaborator
Icahn School of Medicine at Mount Sinai	National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Change in Erythrocyte Protoporphyrin Levels	Relative difference in erythrocyte protoporphyrin levels between baseline and 12 months after treatment	Baseline and at 12 months
Secondary	Mean Change in EPP-specific Quality of Life Questionnaire	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

External Links

•   Porphyrias Consortium website