Erythropoietic Protoporphyria, EPP, X-linked Protoporphyria, XLP
Conditions
Keywords
Interventional, open-label, EPP, XLP, porphyria
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.
Interventions
DRUGOral Iron
for one year
Sponsors
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Icahn School of Medicine at Mount Sinai
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Change in Erythrocyte Protoporphyrin Levels | Baseline and at 12 months | Relative difference in erythrocyte protoporphyrin levels between baseline and 12 months after treatment |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Mean Change in EPP-specific Quality of Life Questionnaire | 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. |
Countries
United States
Participant flow
Participants by arm
| Arm | Count |
|---|---|
| Oral Iron standard dose of oral iron pills for one year | 16 |
| Total | 16 |
Withdrawals & dropouts
| Period | Reason | FG000 |
|---|---|---|
| Overall Study | Lost to Follow-up | 2 |
| Overall Study | Withdrawal by Subject | 4 |
Baseline characteristics
| Characteristic | Oral Iron |
|---|---|
| Age, Continuous | 38.8 years STANDARD_DEVIATION 14.5 |
| Ethnicity (NIH/OMB) Hispanic or Latino | 2 Participants |
| Ethnicity (NIH/OMB) Not Hispanic or Latino | 14 Participants |
| Ethnicity (NIH/OMB) Unknown or Not Reported | 0 Participants |
| Race (NIH/OMB) American Indian or Alaska Native | 0 Participants |
| Race (NIH/OMB) Asian | 0 Participants |
| Race (NIH/OMB) Black or African American | 0 Participants |
| Race (NIH/OMB) More than one race | 0 Participants |
| Race (NIH/OMB) Native Hawaiian or Other Pacific Islander | 0 Participants |
| Race (NIH/OMB) Unknown or Not Reported | 0 Participants |
| Race (NIH/OMB) White | 16 Participants |
| Sex: Female, Male Female | 11 Participants |
| Sex: Female, Male Male | 5 Participants |
Adverse events
| Event type | EG000 affected / at risk |
|---|---|
| deaths Total, all-cause mortality | 0 / 10 |
| other Total, other adverse events | 9 / 10 |
| serious Total, serious adverse events | 3 / 10 |
Outcome results
Primary
Change in Erythrocyte Protoporphyrin Levels
Relative difference in erythrocyte protoporphyrin levels between baseline and 12 months after treatment
Time frame: Baseline and at 12 months
| Arm | Measure | Group | Value (MEAN) | Dispersion |
|---|---|---|---|---|
| Oral Iron | Change in Erythrocyte Protoporphyrin Levels | Baseline | 2314.6 µg/dL | Standard Deviation 1820.3 |
| Oral Iron | Change in Erythrocyte Protoporphyrin Levels | 12 months | 2240.4 µg/dL | Standard Deviation 2312.6 |
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.
Time frame: Baseline and 12 months
| Arm | Measure | Value (MEAN) | Dispersion |
|---|---|---|---|
| Oral Iron | Mean Change in EPP-specific Quality of Life Questionnaire | 3.3 mean change in score on a scale | Standard Deviation 18.3 |