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.
Study Type
OBSERVATIONAL
Enrollment
50
Massachusetts General Hospital
Boston, Massachusetts, United States
RECRUITINGMount Sinai School of Medicine
New York, New York, United States
RECRUITINGWake Forest University Baptist Health - Dept of Gastroenterology
Wake Forest, North Carolina, United States
RECRUITINGTemple University
Philadelphia, Pennsylvania, United States
NOT_YET_RECRUITINGUniversity of Texas Health - Ertan Digestive Disease Center
Houston, Texas, United States
RECRUITINGUZ Leuven
Leuven, Belgium
NOT_YET_RECRUITINGUniversity of Alberta Hospital
Edmonton, Canada
NOT_YET_RECRUITINGCentre Hospitalier Universitaire de Bordeaux - Hopital Saint - Andre
Bordeaux, France
NOT_YET_RECRUITINGAP-HP Hopital Bichat - Claude Bernard
Paris, France
NOT_YET_RECRUITINGFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano
Milan, Italy
NOT_YET_RECRUITING...and 9 more locations
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, 24
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, 24
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, 24
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, 24
Sunlight Exposure Required to Induce Prodromal Symptoms
Amount of sunlight exposure associated with onset of prodromal symptoms, along with corresponding plasma protoporphyrin IX (PPIX) levels.
Time frame: Baseline and Weeks 4, 8, 12, 16, 20
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, 24
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