Erythropoietic protoporphyria life impact and genetic health trajectory (EPP LIGHT): a survey of adults and adolescents in Europe living with EPP
The EPP LIGHT study is an online survey for people aged 12 and over who have Erythropoietic Protoporphyria (EPP) or X-linked Protoporphyria (XLP), living in the UK, France, Germany, Italy, or Spain. EPP/XLP are rare conditions where sunlight causes painful skin reactions and can affect the liver. This survey aims to understand the daily impact of these conditions, including how they affect quality of life, symptoms, and healthcare visits. By completing a questionnaire that takes about an hour, participants will help researchers learn more about how EPP/XLP affects people, which could lead to better care in the future. There are no direct benefits to taking part, but your contribution can make a difference.
At a glance
What is this study about?
Imagine living with a condition where sunlight, even indirect light, can cause your skin to burn, itch, and swell painfully. This is the reality for people with Erythropoietic Protoporphyria (EPP) and X-linked Protoporphyria (XLP). These are rare, inherited conditions where certain substances build up in the body, making people extremely sensitive to light. While the exact genetic cause differs between EPP and XLP, the symptoms and challenges faced are very similar.
The EPP LIGHT study, which stands for Erythropoietic Protoporphyria Life Impact and Genetic Health Trajectory, wants to understand more about what it's like to live with EPP or XLP in Europe. Scientists and doctors currently don't have a complete picture of how these conditions truly affect people's daily lives, their overall well-being, the specific symptoms they experience, and how often they need to see doctors or use other healthcare services.
The main goal of this study is to gather this important information. By collecting experiences directly from people living with EPP or XLP, the study aims to paint a clearer picture of the challenges they face. This understanding is crucial because it can help guide future research into treatments, improve the way healthcare is provided, and allow for better support for individuals and families affected by these conditions. Your participation can help make a difference for others in the future.
Key takeaways
- The EPP LIGHT study is an online survey.
- It's for people with EPP or XLP, aged 12 and over, in specific European countries.
- The survey aims to understand the daily impact of EPP/XLP on quality of life, symptoms, and healthcare.
- Participation involves completing a single hour-long online questionnaire.
- There are no direct benefits to you, but your input can help future care for others.
- The study runs from August 1st to October 31st, 2025.
Who may be eligible?
This study is looking for people who have been officially diagnosed with Erythropoietic Protoporphyria (EPP) or X-linked Protoporphyria (XLP). You need to be 12 years old or older to take part.
To join, you should live in one of these countries: the UK, France, Germany, Italy, or Spain. You also need to be able to speak, read, and write in English, French, German, Italian, Spanish, or Welsh.
It's important that you can understand and answer the questions in an online survey. If you have any difficulties with your sight, hearing, or thinking that would make it hard to complete the questionnaire, then this study might not be suitable for you.
Could this study suit you?
Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.
- I have a confirmed diagnosis of EPP or XLP.
- I am 12 years old or older.
- I live in the UK, France, Germany, Italy, or Spain.
- I can read and write in English, French, German, Italian, Spanish, or Welsh.
- I can use a computer or tablet to complete an online survey.
What does participation involve?
If you decide to take part, your involvement will be quite straightforward. You will be asked to complete a single online questionnaire. This questionnaire will ask about how your condition affects your quality of life, the symptoms you experience (including early warning signs and pain), how often you use healthcare services (like doctor visits or medicines), and how your daily activities are impacted. Teenagers (12 and older) will answer slightly different questions that are more suited to their age, focusing on things like well-being, friends, and school. Everyone will also be asked some basic questions about themselves. The questionnaire is expected to take about one hour to complete, and you will only need to do it once.
Potential risks and benefits
Locations (1)
- Online studyCity onlyN/A, England
Common questions
What is EPP/XLP?
EPP (Erythropoietic Protoporphyria) and XLP (X-linked Protoporphyria) are rare, inherited conditions that make your skin very sensitive to light, causing painful reactions. They can also affect the liver.
What does a 'confirmed diagnosis' mean?
It means a doctor has officially told you that you have EPP or XLP after doing tests.
How long will the survey take?
The online questionnaire is expected to take about one hour to complete.
When can I join the study?
The study will be open for people to join between August 1st, 2025, and October 31st, 2025.
Who is running this study?
The study is being conducted by Sciensus, a European healthcare organisation based in the UK, and funded by Disc Medicine in the USA.
How to find out more
Mathieu Loiseau
Always speak to your GP or specialist before deciding to take part in a study.
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