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

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.

• Authors: G Biolcati, E Marchesini, F Sorge, L Barbieri, X Schneider-Yin, E I Minder
• Journal: The British journal of dermatology (Br J Dermatol) Vol. 172 Issue 6 Pg. 1601-1612 (Jun 2015) ISSN: 1365-2133 [Electronic] England
• PMID: 25494545 (Publication Type: Clinical Trial, Phase II, Clinical Trial, Phase III, Journal Article, Multicenter Study, Observational Study)
• Copyright: © 2014 The Authors. British Journal of Dermatology published by John Wiley & Sons Ltd on behalf of British Association of Dermatologists.

Chemical References

• Delayed-Action Preparations
• Dermatologic Agents
• Melanins
• alpha-MSH
• afamelanotide

Topics

• Administration, Cutaneous
• Adult
• Delayed-Action Preparations
• Dermatologic Agents (administration & dosage, adverse effects)
• Female
• Humans
• Long-Term Care
• Male
• Medication Adherence
• Melanins (metabolism)
• Protoporphyria, Erythropoietic (drug therapy)
• Quality of Life
• Retrospective Studies
• Treatment Outcome
• alpha-MSH (administration & dosage, adverse effects, analogs & derivatives)