Afamelanotide improves quality of life and light tolerance in Austrian erythropoietic protoporphyria patients

Summary Background Erythropoietic protoporphyria (EPP) is a rare genetic disorder characterized by severe phototoxic reactions that occur within minutes of light exposure. In clinical studies, afamelanotide has been shown to prolong pain‐free sun exposure, improve quality of life, and reduce the frequency and severity of phototoxic reactions. Objective To present the real‐world data of the Austrian EPP cohort treated with afamelanotide. Patients and Methods Data from all Austrian EPP patients treated with afamelanotide in 2023 (n = 20) were analyzed and compared to baseline data on quality of life, phototoxic burn tolerance time (PBTT), reported UV index on the day with the longest PBTT, and incidence and severity of phototoxic reactions. Results Before treatment, the EPP QoL score had a median of 11.11 (IQR 3.03–19.44) and increased to a median of 79.17 (IQR 75.00–97.22) under therapy. Phototoxic burn tolerance time (PBTT) increased from a median of 15 minutes (IQR 10–25) to a median of 250 minutes (IQR 120–300) under therapy. Before therapy 88% of patients had phototoxic reactions, while on therapy only 33% were affected. Treatment side effects were only mild and transient. Conclusions The real‐world data of the Austrian cohort confirm the effectiveness and safety of afamelanotide in EPP patients.