Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2023 Mar 28;20(7):5296.
doi: 10.3390/ijerph20075296.

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

Jasmin Barman-Aksözen  1   2   3 , Anna-Elisabeth Minder  3   4 , Francesca Granata  1   5 , Mårten Pettersson  1 , Cornelia Dechant  1 , Mehmet Hakan Aksözen  1 , Rocco Falchetto  1
Affiliations

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

Jasmin Barman-Aksözen et al. Int J Environ Res Public Health. .

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: EQ-5D; National Institute for Health and Care Excellence; afamelanotide; erythropoietic protoporphyria; health technology assessment; highly specialised technologies; orphan drug; quality of life; quality-adjusted life years.

PubMed Disclaimer

Conflict of interest statement

J.B.-A., F.G., F.B., M.P., C.D., M.H.A., and R.F. declare that they do not have any conflicts of interest. AM had an unrestricted research grant from Clinuvel, the manufacturer of afamelanotide, and currently receives financial support for a porphyria study nurse from Alnylam. Both grants were paid to the Stiftung für wissenschaftliche Forschung am Stadtspital Zürich.

Figures

Figure 1
Figure 1
(A–D): Results obtained with the EQ-5D and EPP-QoL instruments for patients with erythropoietic protoporphyria.
Figure 2
Figure 2
A (EQ-5D data available)+ B (EQ-5D data available and suitable): EQ-5D collected in clinical trials or observational studies in the evaluation of previously assessed highly specialised technologies at the National Institute for Health and Care Excellence in England (Table S2).
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

References

    1. Magnus I.A., Jarrett A., Prankerd T.A.J., Rimington C. Erythropoietic Protoporphyria a New Porphyria Syndrome with Solar Urticaria Due to Protoporphyrinaemia. Lancet. 1961;278:448–451. doi: 10.1016/S0140-6736(61)92427-8. - DOI - PubMed
    1. Whatley S.D., Ducamp S., Gouya L., Grandchamp B., Beaumont C., Badminton M.N., Elder G.H., Holme S.A., Anstey A.V., Parker M., et al. C-Terminal Deletions in the ALAS2 Gene Lead to Gain of Function and Cause X-Linked Dominant Protoporphyria without Anemia or Iron Overload. Am. J. Hum. Genet. 2008;83:408–414. doi: 10.1016/j.ajhg.2008.08.003. - DOI - PMC - PubMed
    1. Yien Y.Y., Ducamp S., van der Vorm L.N., Kardon J.R., Manceau H., Kannengiesser C., Bergonia H.A., Kafina M.D., Karim Z., Gouya L., et al. Mutation in Human CLPX Elevates Levels of δ-Aminolevulinate Synthase and Protoporphyrin IX to Promote Erythropoietic Protoporphyria. Proc. Natl. Acad. Sci. USA. 2017;114:E8045. doi: 10.1073/pnas.1700632114. - DOI - PMC - PubMed
    1. Schnait F.G., Wolff K., Konrad K. Erythropoietic Protoporphyria—Submicroscopic Events during the Acute Photosensitivity Flare. Br. J. Dermatol. 1975;92:545–557. doi: 10.1111/j.1365-2133.1975.tb03123.x. - DOI - PubMed
    1. Holme S.A., Anstey A.V., Finlay A.Y., Elder G.H., Badminton M.N. Erythropoietic Protoporphyria in the U.K.: Clinical Features and Effect on Quality of Life. Br. J. Dermatol. 2006;155:574–581. doi: 10.1111/j.1365-2133.2006.07472.x. - DOI - PubMed

LinkOut - more resources