Erythropoietic ProtoporphyriaEPPNCT02979249
Oral Iron for Erythropoietic Protoporphyrias
A study testing Oral Iron in people with Erythropoietic Protoporphyria and EPP, run by Icahn School of Medicine at Mount Sinai at 6 sites in United States.
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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Erythropoietic Protoporphyria, EPP, X-linked Protoporphyria
- What is being tested?
- Oral Iron
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 16 participants
- Where
- 6 sitesUnited States
- Study dates
- Dec 2016to 19 Jul 2019
- Phase
- Interventional
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
6 sites in 1 country.
6 sites in 1 country
United States6 sites
University of Alabama, Birmingham
Birmingham, Alabama, 35294
University of Texas Medical Branch
Galveston, Texas, 77555
Icahn School of Medicine at Mount Sinai
New York, New York, 10029
University of Utah
Salt Lake City, Utah, 84132
University of California
San Francisco, California, 94143
Wake Forest University Health Sciences
Winston-Salem, North Carolina, 27106
About this study
Official title: Effect of Oral Iron Therapy on Erythrocyte Protoporphyrin Levels in the Erythropoietic Protoporphyrias
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.
Read the 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.
- Conditions
- Erythropoietic Protoporphyria, EPP, X-linked Protoporphyria, XLP
- Being tested
- Oral Iron
- Keywords
- Interventional, open-label, EPP, XLP, porphyria
- Medical subject headings
- Protoporphyria, Erythropoietic, Protoporphyria, Erythropoietic, X-Linked Dominant, Porphyrias
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Oral IronDrug
Also called Ferrous sulfate USP
for one year
| Study group | Role | What they receive |
|---|---|---|
| Oral Iron | Experimental | standard dose of iron pills Receives: Drug: Oral Iron |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change in Erythrocyte Protoporphyrin Levels
Relative difference in erythrocyte protoporphyrin levels between baseline and 12 months after treatment
Measured: Baseline and at 12 months
Secondary outcomes (1)
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.
Measured: Baseline and 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Dec 2016 (estimated)
- Study startDec 2016
- Primary completion19 Jul 2019
- Study completion19 Jul 2019
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Erythropoietic ProtoporphyriaStudies of the same condition, open and under way.
- More trials run by Icahn School of Medicine at Mount SinaiThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 16 participants (actual)
Sponsor and investigators
- Lead sponsor
- Icahn School of Medicine at Mount Sinai
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Manisha C Balwani, Icahn School of Medicine at Mount Sinai
- Investigators
- Manisha Balwani, MD, MS, Study chair, Icahn School of Medicine at Mount Sinai
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02979249
- Sponsor's protocol ID
- GCO 08-0959-1001
- Other IDs
- U54DK083909
- Acronym
- EPP
- Status last verified
- Aug 2020
- First submitted
- 29 Nov 2016
- Last updated
- 11 Sep 2020
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- Yes
Publications
Balwani M, Naik H, Overbey JR, Bonkovsky HL, Bissell DM, Wang B, Phillips JD, Desnick RJ, Anderson KE. A pilot study of oral iron therapy in erythropoietic protoporphyria and X-linked protoporphyria. Mol Genet Metab Rep. 2022 Nov 14;33:100939. doi: 10.1016/j.ymgmr.2022.100939. eCollection 2022 Dec.
PubMed 36406817
Study at a glance
From the registry record, last updated by the sponsor on 11 Sep 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Effect of Oral Iron Therapy on Erythrocyte Protoporphyrin Levels in the Erythropoietic Protoporphyrias
- ClinicalTrials.gov ID
- NCT02979249
- Acronym / sponsor ID
- EPP / GCO 08-0959-1001
- Conditions
- Erythropoietic Protoporphyria, EPP, X-linked Protoporphyria, XLP
- Keywords
- Interventional, open-label, EPP, XLP, porphyria
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 16 participants (actual)
- Lead sponsor
- Icahn School of Medicine at Mount SinaiUniversity, hospital or other
- Collaborators
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
- Study start
- Dec 2016
- Primary completion
- 19 Jul 2019 (actual)
- Study completion
- 19 Jul 2019 (actual)
- First posted
- 1 Dec 2016 (estimated)
- Results
- Posted 11 Sep 2020
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Oral Iron | Experimental | Drug: Oral Ironstandard dose of iron pills |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (6 listed)
- 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
Key exclusion criteria (6 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Oral IronAlso: Ferrous sulfate USPfor one year | Drug | Oral Iron |
Primary outcome
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
1 secondary outcome
Mean Change in EPP-specific Quality of Life Questionnaire
Time frame: Baseline and 12 months
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 11 Sep 2020.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
- Derived from this study: PubMed 36406817Balwani M, Naik H, Overbey JR, Bonkovsky HL, Bissell DM, Wang B, Phillips JD, Desnick RJ, Anderson KE. A pilot study of oral iron therapy in erythropoietic protoporphyria and X-linked protoporphyria. Mol Genet Metab Rep. 2022 Nov 14;33:100939. doi: 10.1016/j.ymgmr.2022.100939. eCollection 2022 Dec.
- Porphyrias Consortium websiteLink provided by the sponsor.
Related trials for Erythropoietic Protoporphyria
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RecruitingPhase 2/3
A Study to Investigate PORT-77 Oral Dosing Compared With Placebo in Participants With Erythropoietic Protoporphyria (EPP) or X-linked Protoporphyria (XLP)
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Active, not recruitingPhase 3
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EPP, XLP
RecruitingObservational study
Longitudinal Study of the Porphyrias
Acute Porphyrias, Cutaneous Porphyrias
RecruitingObservational study
Observational Study of Adults and Adolescents With Erythropoietic Protoporphyria (EPP) and X-linked Porphyria (XLP)
Erythropoietic Protoporphyria (EPP), X-Linked Porphyria (XLP)
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Manisha Balwani, MD, MS study chair
Icahn School of Medicine at Mount Sinai
6 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Oral Iron in people with Erythropoietic Protoporphyria and EPP, run by Icahn School of Medicine at Mount Sinai at 6 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 11 Sep 2020. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 6 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Yes. Results are posted in the registry (first posted 11 Sep 2020). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change in Erythrocyte Protoporphyrin Levels (time frame: Baseline and at 12 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02979249, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 11 Sep 2020.