Observational Study of Adults and Adolescents With Erythropoietic Protoporphyria (EPP) and X-linked Porphyria (XLP)

Condition(s) studied

Study 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

Primary outcome measure(s)

• 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.

Trial sites (19)