Afamelanotide for Treatment of the Protoporphyrias: Impact on Quality of Life and Laboratory Parameters in a US Cohort.

Leaf RK, Naik H, Jiang PY, Elmariah SB, Hodges P, Mead J, Trinidad J, Saberi B, Tran B, Valiante S, Mernick F, Leaf DE, Anderson KE, Dickey AK

Life (Basel, Switzerland)28 May 2024Cited by 4 (Europe PMC)

PMID38929673DOI10.3390/life14060689PepBankPUB-38929673

Download PDF PubMedAsk about this study

Jump to 5 results

Summary

BackgroundErythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare disorders of heme biosynthesis characterized by severe cutaneous phototoxicity. Afamelanotide, an α-melanocyte-stimulating hormone analogue, is the only approved treatment for protoporphyria and leads to increased light tolerance and improved quality of life (QoL). However, published experience with afamelanotide in the US is limited.MethodsHere, we report on all adults who received at least one dose of afamelanotide at the Massachusetts General Hospital Porphyria Center from 2021 to 2022. Changes in the time to phototoxic symptom onset, QoL, and laboratory parameters were assessed before and during treatment with afamelanotide.ResultsA total of 29 patients with protoporphyria were included, 26 of whom (72.2%) received ≥2 afamelanotide implants. Among the patients who received ≥2 implants, the median time to symptom onset following sunlight exposure was 12.5 min (IQR, 5-20) prior to the initiation of afamelanotide and 120 min (IQR, 60-240) after treatment (p < 0.001). Improvements in QoL during afamelanotide treatment were measured using two QoL tools, with good correlation observed between these two instruments. Finally, we found no improvements in the median levels of metal-free erythrocyte protoporphyrin, plasma protoporphyrin, or liver biochemistries during versus prior to the initiation of afamelanotide treatment.ConclusionsThis study highlights a dramatic clinical benefit of afamelanotide in relation to light tolerance and QoL in protoporphyria, albeit without improvement in protoporphyrin levels or measures of liver function.

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 protoporphyria who received at least 2 afamelanotide implants, median time to symptom onset after sunlight rose from 12.5 min before treatment to 120 min after treatment.
In plain wordsIn people with protoporphyria, afamelanotide implants lengthened the time in sunlight before symptoms began, from 12.5 to 120 minutes.
Peptide
Melanotan I (afamelanotide)
Outcome
IncreaseTime to symptom onset after sunlight exposure
Study
n = 26
Outcome group
Skin and hair · Skin and wound
Studied dose
Dose not stated
Measurements
Median time to symptom onset
12.5 min
before afamelanotide
Median time to symptom onset
120 min
after afamelanotide
Source sentences
Summary
Among the patients who received ≥2 implants, the median time to symptom onset following sunlight exposure was 12.5 min (IQR, 5-20) prior to the initiation of afamelanotide and 120 min (IQR, 60-240) after treatment (p < 0.001).
2 context sentences(design, population, supporting numbers)
Summary · context
Here, we report on all adults who received at least one dose of afamelanotide at the Massachusetts General Hospital Porphyria Center from 2021 to 2022.
Summary · context
Changes in the time to phototoxic symptom onset, QoL, and laboratory parameters were assessed before and during treatment with afamelanotide.
Show in the study text Report a problemFND-3892967301
02HumanObservational studyEfficacy outcome
In patients with protoporphyria, quality of life improved during afamelanotide treatment on two QoL tools.
In plain wordsIn people with protoporphyria, quality of life improved during afamelanotide treatment.
Peptide
Melanotan I (afamelanotide)
Outcome
IncreaseQuality of life
Study
n: not reported in source
Outcome group
Quality of life · Whole body
Studied dose
Dose not stated
Source sentences
Summary
Improvements in QoL during afamelanotide treatment were measured using two QoL tools, with good correlation observed between these two instruments.
2 context sentences(design, population, supporting numbers)
Summary · context
Here, we report on all adults who received at least one dose of afamelanotide at the Massachusetts General Hospital Porphyria Center from 2021 to 2022.
Summary · context
Changes in the time to phototoxic symptom onset, QoL, and laboratory parameters were assessed before and during treatment with afamelanotide.
Show in the study text Report a problemFND-3892967302
03HumanObservational studyEfficacy outcome
In patients with protoporphyria, median metal-free erythrocyte protoporphyrin did not improve during afamelanotide treatment.
In plain wordsIn people with protoporphyria, afamelanotide did not lower red blood cell protoporphyrin.
Peptide
Melanotan I (afamelanotide)
Outcome
No significant changeMetal-free erythrocyte protoporphyrin
Study
n: not reported in source
Outcome group
Porphyria markers and attacks · Whole body
Studied dose
Dose not stated
Source sentences
Summary
we found no improvements in the median levels of metal-free erythrocyte protoporphyrin, plasma protoporphyrin, or liver biochemistries during versus prior to the initiation of afamelanotide treatment.
2 context sentences(design, population, supporting numbers)
Summary · context
Here, we report on all adults who received at least one dose of afamelanotide at the Massachusetts General Hospital Porphyria Center from 2021 to 2022.
Summary · context
Changes in the time to phototoxic symptom onset, QoL, and laboratory parameters were assessed before and during treatment with afamelanotide.
Show in the study text Report a problemFND-3892967303
04HumanObservational studyEfficacy outcome
In patients with protoporphyria, median plasma protoporphyrin did not improve during afamelanotide treatment.
In plain wordsIn people with protoporphyria, afamelanotide did not lower plasma protoporphyrin.
Peptide
Melanotan I (afamelanotide)
Outcome
No significant changePlasma protoporphyrin
Study
n: not reported in source
Outcome group
Porphyria markers and attacks · Whole body
Studied dose
Dose not stated
Source sentences
Summary
we found no improvements in the median levels of metal-free erythrocyte protoporphyrin, plasma protoporphyrin, or liver biochemistries during versus prior to the initiation of afamelanotide treatment.
2 context sentences(design, population, supporting numbers)
Summary · context
Here, we report on all adults who received at least one dose of afamelanotide at the Massachusetts General Hospital Porphyria Center from 2021 to 2022.
Summary · context
Changes in the time to phototoxic symptom onset, QoL, and laboratory parameters were assessed before and during treatment with afamelanotide.
Show in the study text Report a problemFND-3892967304
05HumanObservational studyEfficacy outcome
In patients with protoporphyria, liver biochemistries did not improve during afamelanotide treatment.
In plain wordsIn people with protoporphyria, afamelanotide did not improve liver blood tests.
Peptide
Melanotan I (afamelanotide)
Outcome
No significant changeLiver biochemistries
Study
n: not reported in source
Outcome group
Liver fat and liver function · Liver
Studied dose
Dose not stated
Source sentences
Summary
we found no improvements in the median levels of metal-free erythrocyte protoporphyrin, plasma protoporphyrin, or liver biochemistries during versus prior to the initiation of afamelanotide treatment.
2 context sentences(design, population, supporting numbers)
Summary · context
Here, we report on all adults who received at least one dose of afamelanotide at the Massachusetts General Hospital Porphyria Center from 2021 to 2022.
Summary · context
Changes in the time to phototoxic symptom onset, QoL, and laboratory parameters were assessed before and during treatment with afamelanotide.
Show in the study text Report a problemFND-3892967305

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

Terms as the source lists them.

Publication types

Journal Article

Keywords

PepBank is a research reference. Talk to a doctor before you use any peptide.