Observational Study of adults and adolescents with EPP and XLP
Research type
Research Study
Full title
Prospective Clinical Assessment Study in Adolescents and Adults with Erythropoietic Protoporphyria (EPP) and X-Linked Porphyria (XLP) (STEPP)
IRAS ID
362455
Contact name
Barry Sickels
Contact email
Sponsor organisation
Portal Therapeutics (a GondolaBio affiliate)
Duration of Study in the UK
1 years, 2 months, 21 days
Research summary
Erythropoietic Protoporphyria (EPP) and X-Linked Protoporphyria (XLP), are rare, genetic forms of inherited disorder characterised by severe pain in the skin with exposure to sunlight or blue
spectrum light exposure. In both EPP and XLP, a molecule called protoporphyrin accumulates in the bone marrow, where blood cells are made. The protoporphyrin is then transported throughout the body in the blood plasma and red blood cells. When it passes through the blood vessels in the skin, it reacts to sunlight and initiates a painful reaction. Protoporphyrin can also be deposited and build up in the liver, which can lead to liver damage. In EPP, the ferrochelatase (FECH) gene is responsible for the production of heme and the recessive mutations within this gene causes accumulations of protoporphyrin. In XLP, the protoporphyrin build up is caused by gain of function changes in the ALAS2 gene, the result is also a buildup of protoporphyrin and the symptoms are the same as in EPP.
The purpose of this observational study is to collect information about the effects of EPP/XLP in adults and adolescents. There is an unmet need to improve quality of life and it is essential to
characterize the natural history of these conditions. The study duration will be up to 6 months for each participant. It will involve a screening period, study assessment period and follow-up period. During the study assessment period participants will visit the study site every 4 weeks.
Throughout the study, participants will be asked to do physical exams, vital signs measurement, blood samples, a daily diary and wear a wrist device to automatically measure daily exposure to sunlight.
Approximately 50 participants will take part in this study at 15 study sites globally. Portal Therapeutics, Inc., is the “Sponsor” of this research and is responsible for oversight of the
study.REC name
South West - Central Bristol Research Ethics Committee
REC reference
25/SW/0148
Date of REC Opinion
3 Dec 2025
REC opinion
Favourable Opinion