Quality-Adjusted Life Years in Erythropoietic Protoporphyria and Other Rare Diseases: A Patient-Initiated EQ-5D Feasibility Study.

Barman-Aksözen J, Minder AE, Granata F, Pettersson M, Dechant C, Aksözen MH, Falchetto R

International journal of environmental research and public health28 Mar 2023Cited by 8 (Europe PMC)

PMID37047912PMCIDPMC10094018DOI10.3390/ijerph20075296PepBankPUB-37047912

Summary

Erythropoietic protoporphyria (EPP) is an ultra-rare inborn error of metabolism characterised by painful phototoxic burn injuries after short exposure times to visible light. Patients with EPP are highly adapted to their condition which makes the quantification of their health-related quality of life (QoL) challenging. In the presented patient-initiated feasibility study, we describe a new approach to assess treatment benefits in EPP by measuring QoL with the generic EQ-5D instrument in five patients under long-term (≥two years) treatment with afamelanotide, the first approved therapy for EPP. For the study, we selected patients with EPP who in addition were affected by an involuntary treatment interruption (caused by a temporary reimbursement suspension) because we hypothesized that individuals who had previously unlearned their adaptation are better able to assess their life without treatment than treatment-naïve patients. QoL under treatment was comparable to the age-matched population norm, and retrospective results for a treatment interruption and phototoxic reaction time point were comparable to the QoL of patients with chronic neuropathic pain and acute burn injuries, respectively. The results were accepted by the National Institute for Health and Care Excellence in England for their evaluation of the cost-effectiveness of afamelanotide, i.e., the calculation of quality-adjusted life years.

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

Results from this study3

1 result from studies that gave the peptide. 1 result from people.

01HumanCase report or seriesEfficacy outcome
In five patients with EPP on long-term afamelanotide treatment, quality of life was comparable to the age-matched population norm.
In plain wordsIn five people with EPP on long-term afamelanotide, quality of life was similar to that of people of the same age in the general population.
Peptide
Melanotan I (afamelanotide)
Outcome
No significant changeEQ-5D quality of life under long-term treatment
Study
n = 5
Comparator
Age-matched population norm
Outcome group
Quality of life · Whole body
Studied dose
Dose not stated
Source sentences
Summary
QoL under treatment was comparable to the age-matched population norm
1 context sentence(design, population, supporting numbers)
Summary · context
In the presented patient-initiated feasibility study, we describe a new approach to assess treatment benefits in EPP by measuring QoL with the generic EQ-5D instrument in five patients under long-term (≥two years) treatment with afamelanotide, the first approved therapy for EPP.
Show in the study text Report a problemFND-3704791201

Studies that did not test the peptide alone2

In this study, Melanotan I (afamelanotide) was a lab tool or a carrier, part of a mix, or the subject of a lab method. These results are not evidence about taking Melanotan I (afamelanotide).

02HumanNot a test of Melanotan I (afamelanotide) aloneCase report or seriesEfficacy outcome
In five patients with EPP, retrospective quality of life at a treatment interruption was comparable to that of patients with chronic neuropathic pain.
In plain wordsIn five people with EPP, looking back, quality of life when treatment stopped was similar to that of people with long-term nerve pain.
Peptide
Melanotan I (afamelanotide)
Outcome
Not applicableEQ-5D quality of life at treatment interruption
Study
n = 5
Comparator
Patients with chronic neuropathic pain
Outcome group
Quality of life · Whole body
Source sentences
Summary
retrospective results for a treatment interruption and phototoxic reaction time point were comparable to the QoL of patients with chronic neuropathic pain
1 context sentence(design, population, supporting numbers)
Summary · context
In the presented patient-initiated feasibility study, we describe a new approach to assess treatment benefits in EPP by measuring QoL with the generic EQ-5D instrument in five patients under long-term (≥two years) treatment with afamelanotide, the first approved therapy for EPP.
In this study, Melanotan I (afamelanotide) was a lab tool or a carrier, part of a mix, or the subject of a lab method. This result is not evidence about taking Melanotan I (afamelanotide).
Show in the study text Report a problemFND-3704791202
03HumanNot a test of Melanotan I (afamelanotide) aloneCase report or seriesEfficacy outcome
In five patients with EPP, retrospective quality of life at a phototoxic reaction time point was comparable to that of patients with acute burn injuries.
In plain wordsIn five people with EPP, looking back, quality of life during a light reaction was similar to that of people with fresh burns.
Peptide
Melanotan I (afamelanotide)
Outcome
Not applicableEQ-5D quality of life at a phototoxic reaction
Study
n = 5
Comparator
Patients with acute burn injuries
Outcome group
Quality of life · Whole body
Source sentences
Summary
phototoxic reaction time point were comparable to the QoL of patients with chronic neuropathic pain and acute burn injuries
1 context sentence(design, population, supporting numbers)
Summary · context
In the presented patient-initiated feasibility study, we describe a new approach to assess treatment benefits in EPP by measuring QoL with the generic EQ-5D instrument in five patients under long-term (≥two years) treatment with afamelanotide, the first approved therapy for EPP.
In this study, Melanotan I (afamelanotide) was a lab tool or a carrier, part of a mix, or the subject of a lab method. This result is not evidence about taking Melanotan I (afamelanotide).
Show in the study text Report a problemFND-3704791203

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

Subjects

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