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

Jasmin Barman-Aksözen (), Anna-Elisabeth Minder, Francesca Granata, Mårten Pettersson, Cornelia Dechant, Mehmet Hakan Aksözen and Rocco Falchetto
Additional contact information
Jasmin Barman-Aksözen: International Porphyria Patient Network (IPPN), 8032 Zurich, Switzerland
Anna-Elisabeth Minder: Swiss Reference Centre for Porphyrias, Municipal Hospital Zurich Triemli, 8063 Zurich, Switzerland
Francesca Granata: International Porphyria Patient Network (IPPN), 8032 Zurich, Switzerland
Mårten Pettersson: International Porphyria Patient Network (IPPN), 8032 Zurich, Switzerland
Cornelia Dechant: International Porphyria Patient Network (IPPN), 8032 Zurich, Switzerland
Mehmet Hakan Aksözen: International Porphyria Patient Network (IPPN), 8032 Zurich, Switzerland
Rocco Falchetto: International Porphyria Patient Network (IPPN), 8032 Zurich, Switzerland

IJERPH, 2023, vol. 20, issue 7, 1-15

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.

Keywords: quality of life; EQ-5D; quality-adjusted life years; erythropoietic protoporphyria; orphan drug; afamelanotide; National Institute for Health and Care Excellence; highly specialised technologies; health technology assessment (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2023
References: View references in EconPapers View complete reference list from CitEc
Citations: View citations in EconPapers (1)

Downloads: (external link)
https://www.mdpi.com/1660-4601/20/7/5296/pdf (application/pdf)
https://www.mdpi.com/1660-4601/20/7/5296/ (text/html)

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:gam:jijerp:v:20:y:2023:i:7:p:5296-:d:1109856

Access Statistics for this article

IJERPH is currently edited by Ms. Jenna Liu

More articles in IJERPH from MDPI
Bibliographic data for series maintained by MDPI Indexing Manager ().