Long-term observational study of afamelanotide in 115 patients with erythropoietic protoporphyria

G. Biolcati, E. Marchesini, F. Sorge, L. Barbieri, X. Schneider-Yin, E. I. Minder

Research output: Contribution to journalArticle

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Abstract

Background In erythropoietic protoporphyria (EPP), an inherited disease of porphyrin-biosynthesis, the accumulation of protoporphyrin in the skin causes severely painful phototoxic reactions. Symptom prevention was impossible until recently when afamelanotide became available. Afamelanotide-induced skin pigmentation has statistically significantly improved light-tolerance, although the clinical significance of the statistical effect was unknown. Objectives To assess clinical effectiveness by recording compliance and safety during prolonged use. Methods We report longitudinal observations of 115 ambulatory patients with EPP, who were treated with a total of 1023 afamelanotide implants over a period of up to 8 years at two porphyria centres; one in Rome, Italy, and the other in Zurich, Switzerland. Results Since the treatment first became available in 2006, the number of patients treated with 16 mg afamelanotide implants rose continuously until June 2014, when 66% of all patients with EPP known to the porphyria centres were treated. Only three patients considered afamelanotide did not meet their expectations for symptom improvement; 23% discontinued the treatment for other, mostly compelling, reasons such as pregnancy or financial restrictions. The quality of life (QoL) scores, measured by an EPP-specific questionnaire, were 31 ± 24% of maximum prior to afamelanotide treatment, rose to 74% after starting afamelanotide and remained at this level during the entire observation period. Only minor adverse events attributable to afamelanotide, predominantly nausea, were recorded. Conclusion Based on the improved QoL scores, high compliance and low discontinuation rates, we conclude that afamelanotide exhibits good clinical effectiveness and good safety in EPP under long-term routine conditions. What's already known about this topic? Afamelanotide implants have been studied in two phase II and three phase III studies with significant improvement of outcomes: sun sensitivity and EPP-related pain. However, in absolute values the effects have been small. The afamelanotide-induced tanning causes unblinding, so that a positive bias cannot be excluded. What does this study add? This long-term observational study shows that 97% of patients considered afamelanotide to be effective in ameliorating EPP symptoms and 93% adhered to treatment for a prolonged time, if there were no compelling reasons to discontinue, which indicates good clinical effectiveness. This study supports a good safety profile for afamelanotide, as even in long-term usage, only minor adverse effects were observed.

Original languageEnglish
Pages (from-to)1601-1612
Number of pages12
JournalBritish Journal of Dermatology
Volume172
Issue number6
DOIs
Publication statusPublished - Jun 1 2015

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Erythropoietic Protoporphyria
Observational Studies
Porphyrias
Safety
afamelanotide
Compliance
Quality of Life
Tanning
Skin Pigmentation
Porphyrins
Solar System
Therapeutics
Switzerland

ASJC Scopus subject areas

  • Dermatology

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Long-term observational study of afamelanotide in 115 patients with erythropoietic protoporphyria. / Biolcati, G.; Marchesini, E.; Sorge, F.; Barbieri, L.; Schneider-Yin, X.; Minder, E. I.

In: British Journal of Dermatology, Vol. 172, No. 6, 01.06.2015, p. 1601-1612.

Research output: Contribution to journalArticle

Biolcati, G. ; Marchesini, E. ; Sorge, F. ; Barbieri, L. ; Schneider-Yin, X. ; Minder, E. I. / Long-term observational study of afamelanotide in 115 patients with erythropoietic protoporphyria. In: British Journal of Dermatology. 2015 ; Vol. 172, No. 6. pp. 1601-1612.
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abstract = "Background In erythropoietic protoporphyria (EPP), an inherited disease of porphyrin-biosynthesis, the accumulation of protoporphyrin in the skin causes severely painful phototoxic reactions. Symptom prevention was impossible until recently when afamelanotide became available. Afamelanotide-induced skin pigmentation has statistically significantly improved light-tolerance, although the clinical significance of the statistical effect was unknown. Objectives To assess clinical effectiveness by recording compliance and safety during prolonged use. Methods We report longitudinal observations of 115 ambulatory patients with EPP, who were treated with a total of 1023 afamelanotide implants over a period of up to 8 years at two porphyria centres; one in Rome, Italy, and the other in Zurich, Switzerland. Results Since the treatment first became available in 2006, the number of patients treated with 16 mg afamelanotide implants rose continuously until June 2014, when 66{\%} of all patients with EPP known to the porphyria centres were treated. Only three patients considered afamelanotide did not meet their expectations for symptom improvement; 23{\%} discontinued the treatment for other, mostly compelling, reasons such as pregnancy or financial restrictions. The quality of life (QoL) scores, measured by an EPP-specific questionnaire, were 31 ± 24{\%} of maximum prior to afamelanotide treatment, rose to 74{\%} after starting afamelanotide and remained at this level during the entire observation period. Only minor adverse events attributable to afamelanotide, predominantly nausea, were recorded. Conclusion Based on the improved QoL scores, high compliance and low discontinuation rates, we conclude that afamelanotide exhibits good clinical effectiveness and good safety in EPP under long-term routine conditions. What's already known about this topic? Afamelanotide implants have been studied in two phase II and three phase III studies with significant improvement of outcomes: sun sensitivity and EPP-related pain. However, in absolute values the effects have been small. The afamelanotide-induced tanning causes unblinding, so that a positive bias cannot be excluded. What does this study add? This long-term observational study shows that 97{\%} of patients considered afamelanotide to be effective in ameliorating EPP symptoms and 93{\%} adhered to treatment for a prolonged time, if there were no compelling reasons to discontinue, which indicates good clinical effectiveness. This study supports a good safety profile for afamelanotide, as even in long-term usage, only minor adverse effects were observed.",
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AU - Minder, E. I.

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