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ORIGINAL RESEARCH

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)

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Pages 17-30 | Received 06 Sep 2023, Accepted 30 Jan 2024, Published online: 14 Feb 2024

References

  • Balwani M, Naik H, Anderson KE, et al. Clinical, biochemical, and genetic characterization of North American patients with erythropoietic protoporphyria and X-linked protoporphyria. JAMA Dermatol. 2017;153:789–796. doi:10.1001/jamadermatol.2017.1557
  • Lecha M, Puy H, Deybach JC. Erythropoietic protoporphyria. Orphanet J Rare Dis. 2009;4:19. doi:10.1186/1750-1172-4-19
  • Wahlin S, Floderus Y, Stål P, Harper P. Erythropoietic protoporphyria in Sweden: demographic, clinical, biochemical and genetic characteristics. J Intern Med. 2011;269:278–288. doi:10.1111/j.1365-2796.2010.02236.x
  • Holme SA, Anstey AV, Finlay AY, Elder GH, Badminton MN. 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
  • Lala SM, Naik H, Balwani M. Diagnostic delay in erythropoietic protoporphyria. J Pediatr. 2018;202:320–323.e322. doi:10.1016/j.jpeds.2018.06.001
  • Barman-Aksözen J, Minder AE, Granata F, et al. Quality-adjusted life years in erythropoietic protoporphyria and other rare diseases: a patient-initiated EQ-5D feasibility study. Int J Environ Res Public Health. 2023;20. doi:10.3390/ijerph20075296
  • Balwani M. Erythropoietic protoporphyria and X-linked protoporphyria: pathophysiology, genetics, clinical manifestations, and management. Mol Genet Metab. 2019;128:298–303. doi:10.1016/j.ymgme.2019.01.020
  • Dickey AK, Quick C, Ducamp S, et al. Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria. Genet Med. 2021;23:140–148. doi:10.1038/s41436-020-00951-8
  • Langendonk JG, Balwani M, Anderson KE, et al. Afamelanotide for erythropoietic protoporphyria. N Engl J Med. 2015;373:48–59. doi:10.1056/NEJMoa1411481
  • Naik H, Shenbagam S, Go AM, Balwani M. Psychosocial issues in erythropoietic protoporphyria - the perspective of parents, children, and young adults: a qualitative study. Mol Genet Metab. 2019;128(3):314–319. doi:10.1016/j.ymgme.2019.01.023
  • Rufener EA. “und fände nirgends Schatten”. Copingprozesse bei Menschen mit einer erythropoetischen Protoporphyrie (EPP) [“and found no shade”. Coping processes of patients with erythropoietic protoporphyria]. Psychother Psychosom Med Psychol. 1992;42(9–10):339–348. German.
  • Jong CT, Finlay AY, Pearse AD, et al. The quality of life of 790 patients with photodermatoses. Br J Dermatol. 2008;159(1):192–197. doi:10.1111/j.1365-2133.2008.08581.x
  • Frank J, Poblete-Gutiérrez P. Delayed diagnosis and diminished quality of life in erythropoietic protoporphyria: results of a cross-sectional study in Sweden. J Intern Med. 2011;269(3):270–274. doi:10.1111/j.1365-2796.2010.02283.x
  • Barman-Aksözen J, Nydegger M, Schneider-Yin X, Minder AE. Increased phototoxic burn tolerance time and quality of life in patients with erythropoietic protoporphyria treated with afamelanotide - a three years observational study. Orphanet J Rare Dis. 2020;15:213. doi:10.1186/s13023-020-01505-6
  • Biolcati G, Marchesini E, Sorge F, Barbieri L, Schneider-Yin X, Minder EI. Long-term observational study of afamelanotide in 115 patients with erythropoietic protoporphyria. Br J Dermatol. 2015;172(6):1601–1612. doi:10.1111/bjd.13598
  • Ceresnie MS, Mohney L, Ko D, Lim HW, Mohammad TF. Association of quality of life measures with afamelanotide treatment in patients with erythropoietic protoporphyria and x-linked protoporphyria: a retrospective cohort study. J Am Acad Dermatol. 2022. doi:10.1016/j.jaad.2022.10.012
  • Rutter KJ, Ashraf I, Cordingley L, Rhodes LE. Quality of life and psychological impact in the photodermatoses: a systematic review. Br J Dermatol. 2020;182:1092–1102. doi:10.1111/bjd.18326
  • Spelt JM, de Rooij FW, Wilson JH, Zandbergen AA. Vitamin D deficiency in patients with erythropoietic protoporphyria. J Inherit Metab Dis. 2010;Suppl 33(S3):S1–S4. doi:10.1007/s10545-008-1037-0
  • Naik H, Overbey JR, Desnick RJ, et al. Evaluating quality of life tools in North American patients with erythropoietic protoporphyria and X-linked protoporphyria. JIMD Rep. 2019;50:9–19. doi:10.1002/jmd2.12052
  • Balwani M, Bonkovsky HL, Levy C, et al. Dersimelagon in erythropoietic protoporphyrias. N Engl J Med. 2023;388:1376–1385. doi:10.1056/NEJMoa2208754
  • Wensink D, Wagenmakers MAEM, Barman-Aksözen J, et al. Association of afamelanotide with improved outcomes in patients with erythropoietic protoporphyria in clinical practice. JAMA Dermatol. 2020;156:570–575. doi:10.1001/jamadermatol.2020.0352
  • Wensink D, Wagenmakers MAEM, Langendonk JG. Afamelanotide for prevention of phototoxicity in erythropoietic protoporphyria. Expert Rev Clin Pharmacol. 2021;14:151–160. doi:10.1080/17512433.2021.1879638
  • Patient-focused drug development: collecting comprehensive and representative input; 2020. Available from: https://www.fda.gov/regulatory-information/search-fda-guidance-documents/patient-focused-drug-development-collecting-comprehensive-and-representative-input. Accessed February 1, 2024.
  • Patient-focused drug development: methods to identify what is important to patients; 2022. Available from: https://www.fda.gov/regulatory-information/search-fda-guidance-documents/patient-focused-drug-development-methods-identify-what-important-patients. Accessed February 1, 2024.
  • Biolcati G, Hanneken S, Minder EI, et al. Validation of a novel patient reported tool to assess the impact of treatment in erythropoietic protoporphyria: the EPP-QoL. J Patient Rep Outcomes. 2021;5:65. doi:10.1186/s41687-021-00345-7
  • Wensink D, Langendonk JG, Overbey JR, et al. Erythropoietic protoporphyria: time to prodrome, the warning signal to exit sun exposure without pain-a patient-reported outcome efficacy measure. Genet Med. 2021;23:1616–1623. doi:10.1038/s41436-021-01176-z
  • Mathias SD, Burke L, Colwell HH, Mensing G, Savage W, Naik H. Development and content validation of a sunlight exposure diary in patients with erythropoietic protoporphyria. J Patient Rep Outcomes. 2023;7:119. doi:10.1186/s41687-023-00655-y
  • Raef HS, Rebeiz L, Leaf RK, et al. Light-related cutaneous symptoms of erythropoietic protoporphyria and associations with light sensitivity measurements. JAMA Dermatol. 2023;159:204–208. doi:10.1001/jamadermatol.2022.5850
  • Bertrand J, Clarke JT, Hanna D. Erythropoietic protoporphyria: spectrum of three cases. J Cutan Med Surg. 2012;16:311–316. doi:10.1177/120347541201600507