Erythropoietic protoporphyria life impact and genetic health trajectory (EPP LIGHT): a survey of adults and adolescents in Europe living with EPP
| ISRCTN | ISRCTN85286742 |
|---|---|
| DOI | https://doi.org/10.1186/ISRCTN85286742 |
| Sponsor | Disc Medicine |
| Funder | Disc Medicine |
- Submission date
- 05/02/2026
- Registration date
- 17/03/2026
- Last edited
- 17/03/2026
- Recruitment status
- No longer recruiting
- Overall study status
- Completed
- Condition category
- Nutritional, Metabolic, Endocrine
Plain English summary of protocol
Background and study aims
Erythropoietic Protoporphyria (EPP) and X-linked Protoporphyria (XLP) are rare, inherited conditions that is a result of an accumulation of protoporphyrin (PPIX). The genes affected in EPP and XLP are different, but these conditions cause similar symptoms. People with EPP/XLP are very sensitive to light. Symptoms after sunlight (indirect and direct) exposure include burning, itching, and pain on exposed areas of the skin, and these areas can become red/inflamed and swollen. Additionally, people with EPP/XLP may develop liver complications.
There is limited information about the impact of EPP in Europe. The aim of the EPP LIGHT is to describe the burden associated with EPP/XLP in terms of health-related quality of life (HRQoL), symptoms and healthcare resource utilization (HCU).
Who can participate?
Those who are 12 or older, have a confirmed diagnosis of EPP or XLP, and live in the UK, France, Germany, Italy, or Spain may participate in the study. They also need to be able to speak, read, and write in English, French, German, Italian, Spanish, or Welsh, and be willing and able to complete a single online questionnaire that takes about an hour.
What does the study involve?
The EPP LIGHT study is a one time online survey for people with EPP or XLP. It uses a mix of validated and study specific questions to understand how light sensitivity affects quality of life, symptoms (including early warning signs and pain), healthcare use (doctor or hospital visits and medicines), and daily activities. Adolescent participants answer slightly different age appropriate questions about wellbeing, friends, and school, and everyone is asked some basic background details.
What are the possible benefits and risks of participating?
There is no benefit in taking part in this study. However, the results may help improve the care of people with EPP or XLP in the future.
Where is the study run from?
The study is conducted by Sciensus, a European life sciences organisation based in the United Kingdom.
The survey is hosted onto the Climedo platform whose servers are located in Germany.
When is the study starting and how long is it expected to run for?
Enrolment onto the study is due to start on 1st August 2025 and to complete on 31st October 2025.
Who is funding the study?
Disc Medicine (USA)
Who is the main contact?
Mathieu Loiseau, Lead Evidence Generation and Patient Support, mathieu.loiseau@sciensus.com
Contact information
Scientific
321 Arsenal Street, Suite 101, Watertown, MA 02472
Watertown
MA02472
United States of America
| Phone | +1(617)-674-9274 |
|---|---|
| cnorregaard@discmedicine.com |
Principal investigator, Public
107 Station Street
Burton-Upon-Trent
DE14 1SZ
United Kingdom
 ORCID ID |
0009-0007-2708-5605 |
|---|---|
| Phone | +44 7736618069 |
| mathieu.loiseau@sciensus.com |
Study information
| Primary study design | Observational |
|---|---|
| Observational study design | Cross sectional study |
| Scientific title | EPP LIGHT (Life Impact and Genetic Health Trajectory) study: A cross-sectional online survey of adult and adolescent participants with erythropoietic protoporphyria (EPP) in Europe |
| Study acronym | EPP LIGHT |
| Study objectives | To describe the burden associated with EPP in terms of health-related quality of life (HRQoL), symptoms, healthcare resource utilization (HCU) and preference for treatment. |
| Ethics approval(s) |
Approved 30/05/2025, Wales REC 3 (Castlebridge 4, 15-19 Cowbridge Road East, Cardiff, CF11 9AB, United Kingdom; -; Wales.REC3@wales.nhs.uk), ref: 25/WA/0165 |
| Health condition(s) or problem(s) studied | Erythropoietic protoporphyria and X-linked protoporphyria (collectively referred to as EPP) |
| Methodology | The research consists of an online survey study for which participants will be required to complete a one-off questionnaire. Participants will be identified with via the relevant Patient Advocacy Groups which will share a study flyer/ advertisement. Potential participants interested in taking part will register via a weblink / QR code and screened for eligibility. Once eligibility has been confirmed, participants will receive a unique weblink for completing the questionnaire. |
| Intervention type | Other |
| Primary outcome measure(s) |
|
| Key secondary outcome measure(s) | |
| Completion date | 14/11/2025 |
Eligibility
| Participant type(s) | |
|---|---|
| Age group | Mixed |
| Lower age limit | 12 Years |
| Upper age limit | 120 Years |
| Sex | All |
| Target sample size at registration | 100 |
| Total final enrolment | 101 |
| Key inclusion criteria | Confirmed diagnosis of erythropoietic protoporphyria and X-linked protoporphyria |
| Key exclusion criteria | A cognitive or other (visual, hearing) impairment that would interfere with the ability to participate in the study. |
| Date of first enrolment | 01/08/2025 |
| Date of final enrolment | 31/10/2025 |
Locations
Countries of recruitment
- United Kingdom
- England
- Northern Ireland
- Scotland
- Wales
- France
- Germany
- Italy
- Spain
Study participating centre
N/A
N/A
England
Results and Publications
| Individual participant data (IPD) Intention to share | No |
|---|
Study outputs
| Output type | Details | Date created | Date added | Peer reviewed? | Patient-facing? |
|---|---|---|---|---|---|
| Protocol file | 28/05/2025 | 20/02/2026 | No | No |
Additional files
- 48984 EPP LIGHT (EU) Protocol GBR_EN v.2 28May2025.pdf
- Protocol file
Editorial Notes
20/02/2026: Trial's existence confirmed by Wales REC 3.
