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
This trial does not accept healthy volunteersQualifiers
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 population
The study design and key inclusion criteria are focused on EPP/XLP and are inclusive of all potential participants, including those from underrepresented racial and ethnic populations. The sites and countries selected have diverse populations and the potential to enroll diverse participants.
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
Not listed
Trial groups
No trial groups listed
Trial outcomes
Primary outcomes
1
Plasma Protoporphyrin IX (PPIX) Levels Over Time
Plasma protoporphyrin IX (PPIX) concentrations measured at specified study visits.
Time frame
Screening; Baseline; Weeks 4, 8, 12, 16, 20, 242
Clinical History of Phototoxic Symptoms and Prodrome Timing
Medical history of EPP/XLP symptoms, including time to onset of prodromal sensations and occurrence of phototoxic reactions.
Time frame
Screening, Baseline, Weeks 4, 8, 12, 16, 20, 243
Skin Damage Manifestations
Skin damage manifestations associated with EPP/XLP, including swelling, erythema, and chronic skin changes.
Time frame
Screening, Baseline, Weeks 4, 8, 12, 16, 20, 244
Light Exposure and Phototoxic Reaction Data From Daily Diary
Daily recorded light exposure (including time spent outdoors), light dosimetry measurements, and occurrence of phototoxic reactions as captured in participant diaries.
Time frame
Screening, Baseline, Weeks 4, 8, 12, 16, 20, 24Secondary outcomes
1
Liver Function Test Results
Blood levels of liver function parameters (e.g., alanine aminotransferase \[ALT\], aspartate aminotransferase \[AST\], bilirubin) and corresponding plasma protoporphyrin IX (PPIX) levels.
Time frame
Baseline and Weeks 4, 8, 12, 16, 20, 24Sponsors and contacts
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Source ClinicalTrials.gov