Observational Study of Adults and Adolescents With Erythropoietic Protoporphyria (EPP) and X-linked Porphyria (XLP)
Start Date
4/30/2026
Completion Date
4/1/2027
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 Criteria
Age Range: 12 years to No maximum
Conditions
Locations
Massachusetts General Hospital
Boston, Massachusetts 02114
United States
Mount Sinai School of Medicine
New York, New York 10029
United States
Wake Forest University Baptist Health - Dept of Gastroenterology
Wake Forest, North Carolina 27587
United States
Temple University
Philadelphia, Pennsylvania 19121
United States
University of Texas Health - Ertan Digestive Disease Center
Houston, Texas 77030
United States
UZ Leuven
Leuven,
Belgium
University of Alberta Hospital
Edmonton,
Canada
Centre Hospitalier Universitaire de Bordeaux - Hopital Saint - Andre
Bordeaux,
France
AP-HP Hopital Bichat - Claude Bernard
Paris,
France
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano
Milan,
Italy
Azienda Ospedaliero-Universitaria di Modena
Modena,
Italy
Haukeland University Hospital
Bergen,
Norway
Hospital Universitario 12 de Octubre
Madrid,
Spain
Consorcio Hospital General Universitario de Valencia
Valencia,
Spain
Gazi University Faculty of Medicine
Ankara,
Turkey (Türkiye)
University Hospital of Wales
Cardiff,
United Kingdom
Ninewells Hospital
Dundee,
United Kingdom
Guy's Hospital
London,
United Kingdom
Salford Royal Hospital
Manchester,
United Kingdom