Observational Study of Adults and Adolescents With Erythropoietic Protoporphyria (EPP) and X-linked Porphyria (XLP)
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age12+
SponsorPortal Therapeutics, Inc.
About this trial
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
Qualifiers
Aged 12 years and older.
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.
Disqualifiers
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.
Trial design
Treatments tested in this trial
- Not listed
Trial groups
No trial groups listed
Sponsors and collaborators
Source ClinicalTrials.gov