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

Overview

Journal Int J Environ Res Public Health

Publisher MDPI

Specialties Environmental Health
Public Health

Date 2023 Apr 13

PMID 37047912

Authors

Jasmin Barman-Aksozen

Anna-Elisabeth Minder

Francesca Granata

Marten Pettersson

Cornelia Dechant

Mehmet Hakan Aksozen

Rocco Falchetto

Affiliations

Soon will be listed here.

Abstract

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.

Citing Articles

Comparison of the measurement properties and consistency between the EQ-5D-3L and EQ-5D-Y-3L in adolescents aged 15-17 in China.

Wang J, Hong T, Fang H, Luo C, He X, Xie S Health Qual Life Outcomes. 2024; 22(1):59.

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Fair Funding Decisions: Consistency of the Time Horizons Used in the Calculation of Quality-Adjusted Life Years for Therapies for Very Rare Diseases by the National Institute for Health and Care Excellence in England.

Barman-Aksozen J, Hentschel N, Pettersson M, Schupp E, Granata F, Dechant C Int J Environ Res Public Health. 2024; 21(5).

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Development and Content Validation of Novel Patient-Reported Outcome Measures to Assess Disease Severity and Change in Patients with Erythropoietic Protoporphyria: The EPP Impact Questionnaire (EPIQ).

Mathias S, Burke L, Colwell H, Mensing G, Savage W, Naik H Patient Relat Outcome Meas. 2024; 15:17-30.

PMID: 38375415 PMC: 10875163. DOI: 10.2147/PROM.S438892.

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