NCT07567131 Observational Study of Adults and Adolescents With Erythropoietic Protoporphyria (EPP) and X-linked Porphyria (XLP)
| NCT ID | NCT07567131 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Portal Therapeutics, Inc. |
| Condition | Erythropoietic Protoporphyria (EPP) |
| Study Type | OBSERVATIONAL |
| Enrollment | 50 participants |
| Start Date | 2026-04-30 |
| Primary Completion | 2027-03-01 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 50 participants in total. It began in 2026-04-30 with a primary completion date of 2027-03-01.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief 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 Criteria
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 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. Exclusion Criteria: 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.
Contact & Investigator
Frequently Asked Questions
Who can join the NCT07567131 clinical trial?
This trial is open to participants of all sexes, aged 12 Years or older, studying Erythropoietic Protoporphyria (EPP). Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT07567131 currently recruiting?
Yes, NCT07567131 is actively recruiting participants. Contact the research team at patientadvocacy@gondolabio.com for enrollment information.
Where is the NCT07567131 trial being conducted?
This trial is being conducted at Boston, United States, New York, United States, Wake Forest, United States, Philadelphia, United States and 11 additional locations.
Who is sponsoring the NCT07567131 clinical trial?
NCT07567131 is sponsored by Portal Therapeutics, Inc.. The trial plans to enroll 50 participants.