Development and content validation of a sunlight exposure diary in patients with erythropoietic protoporphyria

• Published in: Journal of patient-reported outcomes 2023-11, Vol.7 (1), p.119-5, Article 119
• Main Authors: Mathias, Susan D., Burke, Laurie, Colwell, Hilary H., Mensing, George, Savage, Will, Naik, Hetanshi
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Child, Preschool; Dermatitis, Phototoxic; Diaries; Erythropoietic protoporphyria; Humans; Medicine; Medicine & Public Health; Patient reported outcomes; Patients; Protoporphyria, Erythropoietic - diagnosis; Quality of Life; Quality of Life Research; Rare Diseases; Short Report; Sun; Sun exposure diary; Sunlight - adverse effects; Teenagers
• ISSN: 2509-8020; 2509-8020
• DOI: 10.1186/s41687-023-00655-y

Background Erythropoietic protoporphyria is a rare, inherited disorder presenting in early childhood with severe, painful phototoxicity. EPP has significant impacts on health-related quality of life, though there is variable disease severity. Accurately capturing how much time individuals with EPP can spend outdoors before they develop symptoms is critical to understanding HRQoL and measuring therapeutic response. Therefore, the goal of this study was to develop a comprehensive and content valid sun exposure diary to assess the efficacy of new therapies in individuals with EPP. Methods Qualitative interviews were conducted with adult and adolescent EPP participants, as well as five clinical experts, to obtain their input on the content of an existing sun exposure diary. Revisions to the diary were made based on evidence generated in cognitive debriefing interviews analyzed in eight consecutive groups of EPP participant. Results Interviews were conducted with 17 adults and 6 adolescents with EPP. The average age of adults was 40 years and of adolescents was 14 years. Clinical experts thought the original diary needed clarification on the description of symptoms, how time outdoors was captured, and the distinction between direct vs. indirect sunlight. Participants with EPP also noted these items needed revision, and that the distinction between prodromal symptoms and full reaction symptoms should be clarified. In the final diary version, participants with EPP found most items to be clear and easy to complete/think about. Seventy-six percent of participants (13/17) asked thought the diary was easy to complete. The remainder thought the majority of the diary was easy to complete with the exception of select questions. Conclusions Evaluating a new treatment for EPP requires accurately capturing time in sunlight and symptoms in this unique disorder. The newly developed sun exposure diary is content valid and can be used to assess important aspects of symptoms and daily life and therefore evaluate clinically meaningful therapeutic response.