Health Outcomes Solutions, Palm Beach Gardens, FL, USA.
LORA Group, Normal, IL, USA.
J Patient Rep Outcomes. 2023 Nov 20;7(1):119. doi: 10.1186/s41687-023-00655-y.
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.
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.
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.
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.
红细胞生成性原卟啉症是一种罕见的遗传性疾病，在儿童早期表现为严重的、疼痛的光毒性。EPP 对健康相关生活质量有重大影响，尽管疾病严重程度存在差异。准确地捕捉到 EPP 患者在出现症状之前可以在户外呆多长时间，对于理解 HRQoL 和衡量治疗反应至关重要。因此，本研究的目的是开发一种全面且内容有效的阳光暴露日记，以评估新疗法在 EPP 患者中的疗效。
对成人和青少年 EPP 参与者以及五名临床专家进行了定性访谈，以获取他们对现有阳光暴露日记内容的意见。根据在连续八组 EPP 参与者的认知测试访谈中分析得出的证据，对日记进行了修订。
共对 17 名成人和 6 名青少年 EPP 患者进行了访谈。成人的平均年龄为 40 岁，青少年的平均年龄为 14 岁。临床专家认为原始日记需要对症状描述、户外活动时间的记录以及直接阳光与间接阳光的区别进行澄清。EPP 患者也认为这些项目需要修改，并应澄清前驱症状和完全反应症状之间的区别。在最终的日记版本中，EPP 患者认为大多数项目清晰易懂，易于完成/思考。76%的参与者（13/17）认为日记易于完成。其余参与者认为大多数问题易于完成，只有部分问题除外。
评估 EPP 的新治疗方法需要准确地捕捉到这种独特疾病中阳光和症状的时间。新开发的阳光暴露日记内容有效，可以用于评估症状和日常生活的重要方面，从而评估有临床意义的治疗反应。
