Observational Study of Adults and Adolescents With Erythropoietic Protoporphyria (EPP) and X-linked Porphyria (XLP)
Eligible age
12+ yrs
Accepts
All genders
Locations
5 states
Healthy volunteers
No
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About this study
The purpose of this study is to collect information about the effects of EPP/XLP in adults and adolescents. This is an observational study in which participants will not receive any treatment. Study details include: * The study duration will be up to 6 months for each participant. * After Screening, participants will have a Baseline (Day 1) visit and return for visits every 4 weeks through 24 weeks. * Assessments to evaluate EPP/XLP will include clinical laboratory tests, physical exams, vital signs measurement, blood draws for PPIX concentration, reporting of EPP/XLP-related symptoms (including completion of a daily diary), light dosimetry.
Sponsor: Portal Therapeutics, Inc.
You may qualify if…
- ✓ 1. Aged 12 years and older.
- ✓ 2. Confirmed diagnosis of EPP or XLP as follows:
- ✓ 1. Genetic confirmation of EPP (FECH mutation with reduced ferrochelatase activity) OR
- ✓ 2. Genetic confirmation of XLP (ALAS2 gain-of-function mutation) OR
- ✓ 3. Elevated free PPIX levels in RBCs consistent with EPP/XLP, supported by clinical and/or family history.
- ✓ 3. Currently has symptoms of EPP/XLP.
- ✓ 4. History of consistent, non-painful prodrome within approximately 45 minutes of sunlight exposure and prior to phototoxic attacks, as self-reported by the participant.
- ✓ 5. Willing and able to wear a light dosimetry device during the study.
You may not qualify if…
- ✕ 1. Diagnosis of another porphyria or another photodermatosis that may confound the characterization of EPP/XLP.
- ✕ 2. Has a clinically significant disease or condition that, at the discretion of the Investigator or Sponsor, would interfere with the evaluation of EPP/XLP or study participation, or would make study participation not in the best interest of the participant.
- ✕ 3. Is taking, or has taken within 60 days of Day 1, any medication, vitamin, or supplement that alters sensitivity to light exposure (eg, afamelanotide, melanotan, beta carotene, dersimelagon, or bitopertin).
- ✕ 4. Concurrent or anticipated participation in an interventional clinical trial during the study period.
Where it's recruiting
Source: ClinicalTrials.gov · NCT07567131 · last updated 2026-05-05