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Oral Iron for Erythropoietic Protoporphyrias (EPP)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT02979249
Recruitment Status : Completed
First Posted : December 1, 2016
Results First Posted : September 11, 2020
Last Update Posted : September 11, 2020
Sponsor:
Collaborator:
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Information provided by (Responsible Party):
Manisha C Balwani, Icahn School of Medicine at Mount Sinai

Study Description
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Brief 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.

Condition or disease Intervention/treatment Phase
Erythropoietic Protoporphyria EPP X-linked Protoporphyria XLP Drug: Oral Iron Not Applicable

Detailed 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.

Study Design
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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

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Iron

Arms and Interventions
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Arm Intervention/treatment
Experimental: Oral Iron
standard dose of iron pills
 Drug: Oral Iron
for one year
Other Name: Ferrous sulfate USP


Outcome Measures
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Primary Outcome Measures :
  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 Outcome Measures :
  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.


Eligibility Criteria
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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria

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
Contacts and Locations
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Information from the National Library of Medicine

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


Locations
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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
Sponsors and Collaborators
Icahn School of Medicine at Mount Sinai
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Investigators
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Study Chair: Manisha Balwani, MD, MS Icahn School of Medicine at Mount Sinai
  Study Documents (Full-Text)

Documents provided by Manisha C Balwani, Icahn School of Medicine at Mount Sinai:
Study Protocol and Statistical Analysis Plan  [PDF] June 14, 2017

More Information
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Additional Information:

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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
Keywords provided by Manisha C Balwani, Icahn School of Medicine at Mount Sinai:
Interventional
open-label
EPP
XLP
porphyria
Additional relevant MeSH terms:
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Protoporphyria, Erythropoietic
Porphyrias, Hepatic
Liver Diseases
Digestive System Diseases
Skin Diseases, Genetic
 Genetic Diseases, Inborn
Skin Diseases
Porphyrias
Metabolic Diseases