EPP LIGHT EU
Research type
Research Study
Full title
EPP L.I.G.H.T. (Life Impact and Genetic Health Trajectory) Study: A CROSS-SECTIONAL ONLINE SURVEY OF ADULT AND ADOLESCENT PARTICIPANTS WITH ERYTHROPOIETIC PROTOPORPHYRIA (EPP) IN EUROPE.
IRAS ID
351322
Contact name
Mathieu Loiseau
Contact email
Sponsor organisation
Disc Medicine
Duration of Study in the UK
0 years, 3 months, 4 days
Research summary
Erythropoietic Protoporphyria (EPP) is a rare, inherited metabolic disorder characterized by a deficiency of the enzyme ferrochelatase (FECH); less commonly it is caused by a gain of function mutation in the ALAS2 enzyme X- linked Protoporphyria (XLP) is clinically indistinguishable from EPP and caused by increased activity of the enzyme aminolevulinic acid synthase (ALAS2). Collectively these are both referred to as EPP. The primary sign of EPP is hypersensitivity of the skin to sunlight and to some types of artificial light (e.g., fluorescent light). Symptoms after exposure to light include burning, itching and pain, on exposed areas of the skin. Affected individuals may also experience edema and/or redness or inflammation of the skin. The hands, arms, and face are most commonly affected. EPP affects males and females similarly and is estimated to occur in about 1 in about 74,300 individuals. The onset of skin symptoms generally occurs in infancy; however, in some cases, onset may not occur until adolescence or adulthood.
This cross-sectional, online survey study will be used to describe the burden associated with EPP in terms of health-related quality of life (HRQoL), symptoms and healthcare resource utilization (HCU), and preference for treatment.REC name
Wales REC 3
REC reference
25/WA/0165
Date of REC Opinion
30 May 2025
REC opinion
Further Information Favourable Opinion