Actively Recruiting
Prospective Clinical Assessment Study in Adolescents and Adults With Erythropoietic Protoporphyria and X-Linked Porphyria (STEPP)
Led by Portal Therapeutics, Inc. · Updated on 2026-05-05
50
Participants Needed
19
Research Sites
4 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
This research aims to collect detailed information about the effects of Erythropoietic Protoporphyria (EPP) and X-Linked Porphyria (XLP) in adolescents and adults. It is an observational study, meaning participants will not receive any treatment while researchers observe and record their symptoms and related health data. The study is conducted to better understand these rare conditions and how they affect participants over time. Participants will be involved in the study for up to 6 months, starting with a screening and a baseline visit on Day 1. After that, they will return every 4 weeks for follow-up visits through 24 weeks. During these visits, researchers will perform clinical laboratory tests, physical exams, vital sign measurements, and blood draws to measure protoporphyrin IX (PPIX) levels. Participants will also wear a light dosimetry device to monitor light exposure and complete daily diaries reporting their symptoms. Throughout the study, participants will be assessed for phototoxic symptoms, skin damage, and sunlight exposure required to trigger symptoms. Data collection includes clinical history, symptom timing, liver function tests, and light exposure records. The study team monitors participants’ health during each visit to understand the progression and impact of EPP/XLP, with no treatment administered as part of this research.
CONDITIONS
Brief Title
Observational Study of Adults and Adolescents With Erythropoietic Protoporphyria (EPP) and X-linked Porphyria (XLP)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Aged 12 years or older
- Confirmed diagnosis of EPP or XLP via genetic testing or elevated PPIX levels with clinical/family history
- Currently experiencing symptoms of EPP/XLP
- History of a consistent, non-painful prodrome within about 45 minutes of sunlight exposure before phototoxic attacks
- 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 covered by opaque material starting 2 days before sunlight exposure testing
- Able to provide informed consent and/or assent
- Willing and able to attend study visits and complete study procedures
You will not qualify if you...
- Diagnosis of another porphyria or photodermatosis that could confuse EPP/XLP evaluation
- Any significant disease or condition that would interfere with study participation or evaluation
- Use of medications, vitamins, or supplements that affect light sensitivity within 60 days before Day 1 (e.g., afamelanotide, melanotan, beta carotene, dersimelagon, bitopertin)
- Current or planned participation in an interventional clinical trial during the study period
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - 24 weeks
Participants are observed over time with assessments of plasma protoporphyrin IX levels, phototoxic symptoms, skin damage, light exposure, and liver function.
Visits at baseline, and Weeks 4, 8, 12, 16, 20, and 24
Trial Site Locations
Total: 19 locations
1
Massachusetts General Hospital
Boston, Massachusetts, United States, 02114
Actively Recruiting
2
Mount Sinai School of Medicine
New York, New York, United States, 10029
Actively Recruiting
3
Wake Forest University Baptist Health - Dept of Gastroenterology
Wake Forest, North Carolina, United States, 27587
Actively Recruiting
4
Temple University
Philadelphia, Pennsylvania, United States, 19121
Not Yet Recruiting
5
University of Texas Health - Ertan Digestive Disease Center
Houston, Texas, United States, 77030
Actively Recruiting
6
UZ Leuven
Leuven, Belgium
Not Yet Recruiting
7
University of Alberta Hospital
Edmonton, Canada
Not Yet Recruiting
8
Centre Hospitalier Universitaire de Bordeaux - Hopital Saint - Andre
Bordeaux, France
Not Yet Recruiting
9
AP-HP Hopital Bichat - Claude Bernard
Paris, France
Not Yet Recruiting
10
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano
Milan, Italy
Not Yet Recruiting
11
Azienda Ospedaliero-Universitaria di Modena
Modena, Italy
Not Yet Recruiting
12
Haukeland University Hospital
Bergen, Norway
Not Yet Recruiting
13
Hospital Universitario 12 de Octubre
Madrid, Spain
Actively Recruiting
14
Consorcio Hospital General Universitario de Valencia
Valencia, Spain
Not Yet Recruiting
15
Gazi University Faculty of Medicine
Ankara, Turkey (Türkiye)
Not Yet Recruiting
16
University Hospital of Wales
Cardiff, United Kingdom
Actively Recruiting
17
Ninewells Hospital
Dundee, United Kingdom
Actively Recruiting
18
Guy's Hospital
London, United Kingdom
Actively Recruiting
19
Salford Royal Hospital
Manchester, United Kingdom
Actively Recruiting
Research Team
G
GondolaBio Inquiries
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
Frequently Asked Questions
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