Erythropoietic Protoporphyria (EPP), X-Linked Porphyria (XLP)
Conditions
Keywords
EPP, XLP
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.
Interventions
None listed
Sponsors
Portal Therapeutics, Inc.
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
12 Years to No maximum
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 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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Plasma Protoporphyrin IX (PPIX) Levels Over Time | Screening; Baseline; Weeks 4, 8, 12, 16, 20, 24 | Plasma protoporphyrin IX (PPIX) concentrations measured at specified study visits. |
| Clinical History of Phototoxic Symptoms and Prodrome Timing | Screening, Baseline, Weeks 4, 8, 12, 16, 20, 24 | Medical history of EPP/XLP symptoms, including time to onset of prodromal sensations and occurrence of phototoxic reactions. |
| Skin Damage Manifestations | Screening, Baseline, Weeks 4, 8, 12, 16, 20, 24 | Skin damage manifestations associated with EPP/XLP, including swelling, erythema, and chronic skin changes. |
| Light Exposure and Phototoxic Reaction Data From Daily Diary | Screening, Baseline, Weeks 4, 8, 12, 16, 20, 24 | Daily recorded light exposure (including time spent outdoors), light dosimetry measurements, and occurrence of phototoxic reactions as captured in participant diaries. |
| Sunlight Exposure Required to Induce Prodromal Symptoms | Baseline and Weeks 4, 8, 12, 16, 20 | Amount of sunlight exposure associated with onset of prodromal symptoms, along with corresponding plasma protoporphyrin IX (PPIX) levels. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Liver Function Test Results | Baseline and Weeks 4, 8, 12, 16, 20, 24 | Blood levels of liver function parameters (e.g., alanine aminotransferase \[ALT\], aspartate aminotransferase \[AST\], bilirubin) and corresponding plasma protoporphyrin IX (PPIX) levels. |
Countries
Belgium, Canada, France, Italy, Norway, Spain, Turkey (Türkiye), United Kingdom, United States
Contacts
CONTACTGondolaBio Inquiries
Outcome results
None listed