Observational Study of Adults and Adolescents With Erythropoietic Protoporphyria (EPP) and X-linked Porphyria (XLP)
Recruiting now
Conditions studied: Erythropoietic Protoporphyria (EPP), X-Linked Porphyria (XLP)
In brief
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.
Key facts
- Study ID
- NCT07567131
- Run by
- Portal Therapeutics, Inc.
- People needed
- 50
- Starts
- 2026-04-30
- Expected to finish
- 2027-04-01
- Last updated by the study team
- 2026-05-05
Who can join
Age: 12 and older. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- 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.
- Willing and able to complete a daily diary of EPP/XLP symptoms.
- Willing and able to keep skin sites chosen for provocative sunlight exposure testing covered by opaque material when outside or exposed to potentially triggering light beginning 2 days prior to testing.
- Willing and able to provide informed consent and/or assent for the study.
- Study participants and LAR (as appropriate) are willing and able to comply with study visits and study procedures.
You may not qualify if…
- 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.
Where it is running
- Massachusetts General Hospital — Boston, Massachusetts, United States (enrolling)
- Mount Sinai School of Medicine — New York, New York, United States (enrolling)
- Wake Forest University Baptist Health - Dept of Gastroenterology — Wake Forest, North Carolina, United States (enrolling)
- University of Texas Health - Ertan Digestive Disease Center — Houston, Texas, United States (enrolling)
- Hospital Universitario 12 de Octubre — Madrid, Spain (enrolling)
- University Hospital of Wales — Cardiff, United Kingdom (enrolling)
- Ninewells Hospital — Dundee, United Kingdom (enrolling)
- Guy's Hospital — London, United Kingdom (enrolling)
- Salford Royal Hospital — Manchester, United Kingdom (enrolling)
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano — Milan, Italy
- Azienda Ospedaliero-Universitaria di Modena — Modena, Italy
- Haukeland University Hospital — Bergen, Norway
- Gazi University Faculty of Medicine — Ankara, Turkey (Türkiye)
- Temple University — Philadelphia, Pennsylvania, United States
- Consorcio Hospital General Universitario de Valencia — Valencia, Spain
- UZ Leuven — Leuven, Belgium
- University of Alberta Hospital — Edmonton, Canada
- Centre Hospitalier Universitaire de Bordeaux - Hopital Saint - Andre — Bordeaux, France
- AP-HP Hopital Bichat - Claude Bernard — Paris, France
Full record on ClinicalTrials.gov
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