Observational Study of Adults and Adolescents With Erythropoietic Protoporphyria (EPP) and X-link… (NCT07567131) | Clinical Trial Compass
RecruitingNot Applicable
Observational Study of Adults and Adolescents With Erythropoietic Protoporphyria (EPP) and X-linked Porphyria (XLP)
United States50 participantsStarted 2026-04-30
Plain-language summary
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.
Who can participate
Age range12 Years
SexALL
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Inclusion criteria
✓. Aged 12 years and older.
✓. Confirmed diagnosis of EPP or XLP as follows:
✓. Genetic confirmation of EPP (FECH mutation with reduced ferrochelatase activity) OR
✓. Genetic confirmation of XLP (ALAS2 gain-of-function mutation) OR
✓. Elevated free PPIX levels in RBCs consistent with EPP/XLP, supported by clinical and/or family history.
✓. Currently has symptoms of EPP/XLP.
✓. History of consistent, non-painful prodrome within approximately 45 minutes of sunlight exposure and prior to phototoxic attacks, as self-reported by the participant.
✓. Willing and able to wear a light dosimetry device during the study.
Exclusion criteria
✕. Diagnosis of another porphyria or another photodermatosis that may confound the characterization of EPP/XLP.
. 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.
✕. 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).
✕. Concurrent or anticipated participation in an interventional clinical trial during the study period.