Oral Iron for Erythropoietic Protoporphyrias (EPP)
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ClinicalTrials.gov Identifier: NCT02979249 |
Recruitment Status :
Completed
First Posted : December 1, 2016
Results First Posted : September 11, 2020
Last Update Posted : September 11, 2020
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Condition or disease | Intervention/treatment | Phase |
---|---|---|
Erythropoietic Protoporphyria EPP X-linked Protoporphyria XLP | Drug: Oral Iron | Not Applicable |
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 (Clinical Trial) |
Actual Enrollment : | 16 participants |
Allocation: | N/A |
Intervention Model: | Single Group Assignment |
Masking: | None (Open Label) |
Primary Purpose: | Treatment |
Official Title: | Effect of Oral Iron Therapy on Erythrocyte Protoporphyrin Levels in the Erythropoietic Protoporphyrias |
Study Start Date : | December 2016 |
Actual Primary Completion Date : | July 19, 2019 |
Actual Study Completion Date : | July 19, 2019 |

Arm | Intervention/treatment |
---|---|
Experimental: Oral Iron
standard dose of iron pills
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Drug: Oral Iron
for one year
Other Name: Ferrous sulfate USP |
- 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
- 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.

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
Ages Eligible for Study: | 18 Years and older (Adult, Older Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
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

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02979249
United States, Alabama | |
University of Alabama, Birmingham | |
Birmingham, Alabama, United States, 35294 | |
United States, California | |
University of California | |
San Francisco, California, United States, 94143 | |
United States, New York | |
Icahn School of Medicine at Mount Sinai | |
New York, New York, United States, 10029 | |
United States, North Carolina | |
Wake Forest University Health Sciences | |
Winston-Salem, North Carolina, United States, 27106 | |
United States, Texas | |
University of Texas Medical Branch | |
Galveston, Texas, United States, 77555 | |
United States, Utah | |
University of Utah | |
Salt Lake City, Utah, United States, 84132 |
Study Chair: | Manisha Balwani, MD, MS | Icahn School of Medicine at Mount Sinai |
Documents provided by Manisha C Balwani, Icahn School of Medicine at Mount Sinai:
Responsible Party: | Manisha C Balwani, Associate Professor, Icahn School of Medicine at Mount Sinai |
ClinicalTrials.gov Identifier: | NCT02979249 |
Other Study ID Numbers: |
GCO 08-0959-1001 U54DK083909 ( U.S. NIH Grant/Contract ) |
First Posted: | December 1, 2016 Key Record Dates |
Results First Posted: | September 11, 2020 |
Last Update Posted: | September 11, 2020 |
Last Verified: | August 2020 |
Interventional open-label EPP XLP porphyria |
Protoporphyria, Erythropoietic Porphyrias, Hepatic Liver Diseases Digestive System Diseases Skin Diseases, Genetic |
Genetic Diseases, Inborn Skin Diseases Porphyrias Metabolic Diseases |