Increased phototoxic burn tolerance time and quality of life in patients with erythropoietic protoporphyria treated with afamelanotide - a three years observational study.

Barman-Aksözen J, Nydegger M, Schneider-Yin X, Minder AE

Orphanet journal of rare diseases18 Aug 2020Cited by 24 (Europe PMC)

PMID32811524PMCIDPMC7437008DOI10.1186/s13023-020-01505-6PepBankPUB-32811524

Summary

BackgroundErythropoietic protoporphyria (EPP) is an ultra-rare genetic disorder (prevalence 1:150`000) characterized by instant painful phototoxic burn reactions in skin exposed to visible light. Afamelanotide is the first clinically tested therapy effectively increasing the time EPP patients can spend in direct sunlight without developing symptoms and reducing the number and severity of phototoxic reactions.ObjectivesWe report our data on real-world effectiveness of afamelanotide treatment in EPP and its phototoxic burn protection factor (PBPF).MethodsWe analysed clinical data collected between 2016 and 2018 in the Swiss EPP cohort (n = 39) on maximum phototoxic burn tolerance time (PBTT), i.e., maximum time spent in sunlight without phototoxic reaction, severity of phototoxic reactions as assessed by an 11-point Likert-type visual analogue scale (VAS), with 0 being no pain and 10 being the worst possible pain, and Quality of Life (QoL), as assessed with an EPP-specific instrument.ResultsBefore treatment, the PBTT was median 10 min (IQR 5-20). Under treatment, PBTT increased to median 180 min (IQR 120-240). Individual PBPF increased 1.8- to 180-fold (full range, median 15). The pain severity of the worst phototoxic reaction before treatment was median 10 and under treatment median 6 (IQR 3-7). QoL at the end of the observation period in 2018 (with all the assessed patients under treatment) was 81.4% (IQR 69.4-93.4, n = 34). A 97.4% treatment adherence rate was observed.ConclusionTreatment of EPP patients with afamelanotide is highly effective under real-world conditions. We suggest PBTT as a clinical meaningful endpoint in further clinical trials.

CC BYText from Europe PMC. Highlighted sentences are the source of results.

Results from this study5

5 results from studies that gave the peptide. 5 results from people.

01HumanObservational studyEfficacy outcome
In patients with erythropoietic protoporphyria, median phototoxic burn tolerance time rose from 10 min before afamelanotide to 180 min under treatment.
In plain wordsIn people with erythropoietic protoporphyria, the time in sunlight before a painful reaction rose from 10 minutes to 180 minutes with afamelanotide.
Peptide
Melanotan I (afamelanotide)
Outcome
IncreaseMaximum phototoxic burn tolerance time (PBTT)
Study
n = 39
Comparator
Before treatment
Outcome group
Exercise and physical function · Skin and wound
Studied dose
Dose not stated
Measurements
PBTT before treatment
10 min
median
PBTT under treatment
180 min
median
Source sentences
Summary
Before treatment, the PBTT was median 10 min (IQR 5-20). Under treatment, PBTT increased to median 180 min (IQR 120-240).
1 context sentence(design, population, supporting numbers)
Summary · context
We analysed clinical data collected between 2016 and 2018 in the Swiss EPP cohort (n = 39)
Show in the study text Report a problemFND-3281152401
02HumanObservational studyEfficacy outcome
In patients with erythropoietic protoporphyria, individual phototoxic burn protection factor increased 1.8- to 180-fold under afamelanotide.
In plain wordsIn people with erythropoietic protoporphyria, the protection from sunlight reactions grew between 1.8-fold and 180-fold with afamelanotide.
Peptide
Melanotan I (afamelanotide)
Outcome
IncreasePhototoxic burn protection factor (PBPF)
Study
n = 39
Comparator
Before treatment
Outcome group
Exercise and physical function · Skin and wound
Studied dose
Dose not stated
Measurements
PBPF increase
1.8 to 180 fold
individual range
PBPF median
15 fold
median
Source sentences
Summary
Individual PBPF increased 1.8- to 180-fold (full range, median 15).
1 context sentence(design, population, supporting numbers)
Summary · context
We analysed clinical data collected between 2016 and 2018 in the Swiss EPP cohort (n = 39)
Show in the study text Report a problemFND-3281152402
03HumanObservational studyEfficacy outcome
In patients with erythropoietic protoporphyria, the median pain score of the worst phototoxic reaction fell from 10 before treatment to 6 under afamelanotide.
In plain wordsIn people with erythropoietic protoporphyria, the pain of the worst light reaction fell from 10 to 6 on a 0 to 10 scale with afamelanotide.
Peptide
Melanotan I (afamelanotide)
Outcome
DecreasePain severity of the worst phototoxic reaction
Study
n = 39
Comparator
Before treatment
Outcome group
Pain · Skin and wound
Studied dose
Dose not stated
Measurements
Pain VAS before treatment
10 points
median
Pain VAS under treatment
6 points
median
Source sentences
Summary
The pain severity of the worst phototoxic reaction before treatment was median 10 and under treatment median 6 (IQR 3-7).
1 context sentence(design, population, supporting numbers)
Summary · context
We analysed clinical data collected between 2016 and 2018 in the Swiss EPP cohort (n = 39)
Show in the study text Report a problemFND-3281152403
04HumanObservational studyOther
In patients with erythropoietic protoporphyria, a 97.4% afamelanotide treatment adherence rate was observed.
In plain wordsIn people with erythropoietic protoporphyria, 97.4% of planned afamelanotide treatment was taken.
Peptide
Melanotan I (afamelanotide)
Outcome
Not applicableTreatment adherence
Study
n = 39
Outcome group
Treatment adherence and retention · Whole body
Studied dose
Dose not stated
Measurements
Treatment adherence
97.4%
afamelanotide
Source sentences
Summary
A 97.4% treatment adherence rate was observed.
1 context sentence(design, population, supporting numbers)
Summary · context
We analysed clinical data collected between 2016 and 2018 in the Swiss EPP cohort (n = 39)
Show in the study text Report a problemFND-3281152405
05HumanObservational studyEfficacy outcome
In patients with erythropoietic protoporphyria under afamelanotide, quality of life at the end of the observation period in 2018 was 81.4%.
In plain wordsIn people with erythropoietic protoporphyria treated with afamelanotide, quality of life at the end of the observation period was 81.4%.
Peptide
Melanotan I (afamelanotide)
Outcome
Not applicableQuality of life at end of observation
Study
n = 34
Outcome group
Exercise and physical function · Skin and wound
Studied dose
Dose not stated
Measurements
Quality of life
81.4%
end of observation 2018
Source sentences
Summary
QoL at the end of the observation period in 2018 (with all the assessed patients under treatment) was 81.4% (IQR 69.4-93.4, n = 34).
1 context sentence(design, population, supporting numbers)
Summary · context
We analysed clinical data collected between 2016 and 2018 in the Swiss EPP cohort (n = 39)
Show in the study text Report a problemFND-3281152404

AI wrote and checked these results. AI can make mistakes, so check important results against the source.

Version history

PepBank keeps every version of the data on this study. Status changes from Retraction Watch, Europe PMC and Crossref are listed with their source.

Version 2Current
13 Oct 2026, 21:44 UTC
Study results updated
Version 1
13 Oct 2026, 16:31 UTC
First added · source update from Europe PMC

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