MAP BioPharma Limited, Cambridge, UK.
Kyowa Kirin Services Ltd, Marlow, UK.
Adv Ther. 2020 Feb;37(2):770-784. doi: 10.1007/s12325-019-01193-0. Epub 2019 Dec 21.
Capturing the patient experience of living with a rare disease such as X-linked hypophosphataemia (XLH) is critical for a holistic understanding of the burden of a disease. The complexity of the disease coupled with the limited population makes elicitation of the patient burden methodologically challenging. This study used qualitative information direct from patient and caregiver statements to assess the burden of XLH.
A thematic analysis was conducted on statements received during a National Institute for Health and Care Excellence (NICE) online public open consultation from 15 June to 6 July 2018. Researchers and clinical experts generated themes and codes based on expected aspects of XLH burden. Statements were independently coded by two reviewers, adding additional codes as required, and analysed by frequency and co-reporting across age groups.
The majority of responses were submitted from UK-based patients with some from the USA and Australia, and the statements related to children, adolescents and adults. The findings suggest that the greatest burden experienced by children is associated with conventional therapy, co-reported with dosing regimen, adherence, distress and pain. During adolescence, the burden becomes increasingly complex and multi-factorial, with an increasing psychological burden. In adults, conventional therapy co-reported with bone deformity and orthopaedic surgery, as well as pain, mobility, fatigue and dental problems, featured highly.
Whilst our study was opportunistic in nature, it has highlighted the clear and distinctive evolution of the burden of XLH, transitioning from being therapy-oriented in childhood to multi-factorial in adolescence, and finally to adulthood with its high impact on need for other interventions, function and mobility. This qualitative thematic analysis enhances the understanding of the symptom and treatment burden of XLH.
了解患有罕见疾病（如 X 连锁低磷血症[XLH]）患者的生活体验对于全面了解疾病负担至关重要。由于疾病的复杂性以及有限的患者群体，从方法学角度来评估患者的负担具有挑战性。本研究通过直接从患者和护理人员的陈述中获取定性信息，评估了 XLH 的负担。
对 2018 年 6 月 15 日至 7 月 6 日期间，在英国国家卫生与保健卓越研究所（NICE）在线公开咨询中收到的陈述进行了主题分析。研究人员和临床专家根据预期的 XLH 负担方面生成了主题和代码。陈述由两名评审员独立编码，根据需要添加其他代码，并根据年龄组进行频率和共同报告进行分析。
大多数回复来自英国的患者，其中一些来自美国和澳大利亚，与儿童、青少年和成年人相关。研究结果表明，儿童所经历的最大负担与传统治疗相关，与治疗方案、用药依从性、痛苦和疼痛相关。在青春期，负担变得越来越复杂和多因素，心理负担也越来越重。在成年期，传统治疗与骨骼畸形和矫形手术以及疼痛、活动能力、疲劳和牙科问题共同报告，出现的频率很高。
虽然我们的研究具有一定的机会性，但它突出了 XLH 负担的明显且独特的演变，从儿童时期的以治疗为导向转变为青春期的多因素，最后是成年期，对其他干预、功能和活动能力的需求影响很大。这项定性主题分析增强了对 XLH 症状和治疗负担的理解。
