Oral Iron for Erythropoietic Protoporphyrias (EPP)
Primary Purpose
Erythropoietic Protoporphyria, EPP, X-linked Protoporphyria
Status
Completed
Phase
Not Applicable
Locations
United States
Study Type
Interventional
Intervention
Oral Iron
Sponsored by
About this trial
This is an interventional treatment trial for Erythropoietic Protoporphyria focused on measuring Interventional, open-label, EPP, XLP, porphyria
Eligibility 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
Sites / Locations
- University of Alabama, Birmingham
- University of California
- Icahn School of Medicine at Mount Sinai
- Wake Forest University Health Sciences
- University of Texas Medical Branch
- University of Utah
Arms of the Study
Arm 1
Arm Type
Experimental
Arm Label
Oral Iron
Arm Description
standard dose of iron pills
Outcomes
Primary Outcome Measures
Change in Erythrocyte Protoporphyrin Levels
Relative difference in erythrocyte protoporphyrin levels between baseline and 12 months after treatment
Secondary Outcome Measures
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.
Full Information
NCT ID
NCT02979249
First Posted
November 29, 2016
Last Updated
August 24, 2020
Sponsor
Icahn School of Medicine at Mount Sinai
Collaborators
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
1. Study Identification
Unique Protocol Identification Number
NCT02979249
Brief Title
Oral Iron for Erythropoietic Protoporphyrias
Acronym
EPP
Official Title
Effect of Oral Iron Therapy on Erythrocyte Protoporphyrin Levels in the Erythropoietic Protoporphyrias
Study Type
Interventional
2. Study Status
Record Verification Date
August 2020
Overall Recruitment Status
Completed
Study Start Date
December 2016 (undefined)
Primary Completion Date
July 19, 2019 (Actual)
Study Completion Date
July 19, 2019 (Actual)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Principal Investigator
Name of the Sponsor
Icahn School of Medicine at Mount Sinai
Collaborators
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
4. Oversight
Data Monitoring Committee
Yes
5. Study Description
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.
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.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Erythropoietic Protoporphyria, EPP, X-linked Protoporphyria, XLP
Keywords
Interventional, open-label, EPP, XLP, porphyria
7. Study Design
Primary Purpose
Treatment
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
16 (Actual)
8. Arms, Groups, and Interventions
Arm Title
Oral Iron
Arm Type
Experimental
Arm Description
standard dose of iron pills
Intervention Type
Drug
Intervention Name(s)
Oral Iron
Other Intervention Name(s)
Ferrous sulfate USP
Intervention Description
for one year
Primary Outcome Measure Information:
Title
Change in Erythrocyte Protoporphyrin Levels
Description
Relative difference in erythrocyte protoporphyrin levels between baseline and 12 months after treatment
Time Frame
Baseline and at 12 months
Secondary Outcome Measure Information:
Title
Mean Change in EPP-specific Quality of Life Questionnaire
Description
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.
Time Frame
Baseline and 12 months
10. Eligibility
Sex
All
Minimum Age & Unit of Time
18 Years
Accepts Healthy Volunteers
No
Eligibility 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
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Manisha Balwani, MD, MS
Organizational Affiliation
Icahn School of Medicine at Mount Sinai
Official's Role
Study Chair
Facility Information:
Facility Name
University of Alabama, Birmingham
City
Birmingham
State/Province
Alabama
ZIP/Postal Code
35294
Country
United States
Facility Name
University of California
City
San Francisco
State/Province
California
ZIP/Postal Code
94143
Country
United States
Facility Name
Icahn School of Medicine at Mount Sinai
City
New York
State/Province
New York
ZIP/Postal Code
10029
Country
United States
Facility Name
Wake Forest University Health Sciences
City
Winston-Salem
State/Province
North Carolina
ZIP/Postal Code
27106
Country
United States
Facility Name
University of Texas Medical Branch
City
Galveston
State/Province
Texas
ZIP/Postal Code
77555
Country
United States
Facility Name
University of Utah
City
Salt Lake City
State/Province
Utah
ZIP/Postal Code
84132
Country
United States
12. IPD Sharing Statement
Links:
URL
https://www.rarediseasesnetwork.org/cms/porphyrias/Studies
Description
Porphyrias Consortium website
Learn more about this trial
Oral Iron for Erythropoietic Protoporphyrias
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