Observational Study of Adults and Adolescents With Erythropoietic Protoporphyria (EPP) and X-linked Porphyria (XLP)
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Erythropoietic Protoporphyria (EPP), X-Linked Porphyria (XLP). Basic parameters: from 12 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States, Belgium, Canada, France, Italy +4
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Prospective Clinical Assessment Study in Adolescents and Adults With Erythropoietic Protoporphyria (EPP) and X-Linked Porphyria (XLP) (STEPP)
Overview
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.
Primary outcome measures
- Plasma Protoporphyrin IX (PPIX) Levels Over Time [Time frame: Screening; Baseline; Weeks 4, 8, 12, 16, 20, 24]
- Clinical History of Phototoxic Symptoms and Prodrome Timing [Time frame: Screening, Baseline, Weeks 4, 8, 12, 16, 20, 24]
- Skin Damage Manifestations [Time frame: Screening, Baseline, Weeks 4, 8, 12, 16, 20, 24]
- Light Exposure and Phototoxic Reaction Data From Daily Diary [Time frame: Screening, Baseline, Weeks 4, 8, 12, 16, 20, 24]
- Sunlight Exposure Required to Induce Prodromal Symptoms [Time frame: Baseline and Weeks 4, 8, 12, 16, 20]
Secondary outcome measures (1)
- Liver Function Test Results [Time frame: Baseline and Weeks 4, 8, 12, 16, 20, 24]
Eligibility criteria
Inclusion criteria
- Aged 12 years and older.
- Confirmed diagnosis of EPP or XLP as follows:
- 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.
- Currently has symptoms of EPP/XLP.
- History of consistent, non-painful prodrome within approximately 45 minutes of sunlight exposure and prior to phototoxic attacks, as self-reported by the participant.
- Willing and able to wear a light dosimetry device during the study.
- Willing and able to complete a daily diary of EPP/XLP symptoms.
- 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.
- Willing and able to provide informed consent and/or assent for the study.
- Study participants and LAR (as appropriate) are willing and able to comply with study visits and study procedures.
Exclusion criteria
- 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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
United States · 5 centers
- Massachusetts General Hospital — Boston
- Mount Sinai School of Medicine — New York
- Wake Forest University Baptist Health - Dept of Gastroenterology — Wake Forest
- Temple University — Philadelphia
- University of Texas Health - Ertan Digestive Disease Center — Houston
United Kingdom · 4 centers
- University Hospital of Wales — Cardiff
- Ninewells Hospital — Dundee
- Guy's Hospital — London
- Salford Royal Hospital — Manchester
France · 2 centers
- Centre Hospitalier Universitaire de Bordeaux - Hopital Saint - Andre — Bordeaux
- AP-HP Hopital Bichat - Claude Bernard — Paris
Italy · 2 centers
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano — Milan
- Azienda Ospedaliero-Universitaria di Modena — Modena
Spain · 2 centers
- Hospital Universitario 12 de Octubre — Madrid
- Consorcio Hospital General Universitario de Valencia — Valencia
Belgium · 1 center
- UZ Leuven — Leuven
Canada · 1 center
- University of Alberta Hospital — Edmonton
Norway · 1 center
- Haukeland University Hospital — Bergen
Turkey (Türkiye) · 1 center
- Gazi University Faculty of Medicine — Ankara
Identifiers
NCT: NCT07567131 · PORT-77-001