ClinicaliQ Trial Snapshot
- Observational Study of Adults and Adolescents With Erythropoietic Protoporphyria (EPP) and X-linked Porphyria (XLP) — Recruiting • Gastroenterology • NCT07567131.
- What is being tested: This observational study collects real-world data on the clinical effects and burden of erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) in adults and adolescents, without administering any experimental treatment or intervention.
- Patient eligibility overview: The study includes adolescents and adults diagnosed with EPP or XLP; participants are observed in their natural disease state without receiving study-related treatments, allowing recruitment from diverse clinical settings.
Use This Page For
- Quick orientation before opening the registry record.
- Checking recruitment status, phase and sponsor at a glance.
- Connecting this trial to nearby guidelines, Drug Science and education.
What This Trial Is Studying
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…
Eligibility Snapshot
- : 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. 6. Willing and able to complete a daily diary of EPP/XLP symptoms. 7. 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. 8. Willing and able to provide informed consent and/or assent for the study. 9. Study participants and LAR (as appropriate) are willing and able to comply with study visits and study procedures.
Use the source registry for the full inclusion and exclusion criteria before discussing referral or enrolment.