Prospective Clinical Assessment Study in Adolescents and Adults With Erythropoietic Protoporphyria (EPP) and X-Linked Porphyria (XLP) (STEPP)
Portal Therapeutics, Inc.
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.
Eligibility
- Age range
- 12+ years
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: 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…
Locations (19)
- Massachusetts General HospitalBoston, Massachusetts
- Mount Sinai School of MedicineNew York, New York
- Wake Forest University Baptist Health - Dept of GastroenterologyWake Forest, North Carolina
- Temple UniversityPhiladelphia, Pennsylvania
- University of Texas Health - Ertan Digestive Disease CenterHouston, Texas
- UZ LeuvenLeuven