AllStripes Research, San Francisco, California, USA.
UCB Pharma, Brussels, Belgium.
Orphanet J Rare Dis. 2024 May 23;19(1):215. doi: 10.1186/s13023-024-03168-z.
Progressive supranuclear palsy (PSP) is a rare neurodegenerative brain disease with rapid progression and currently limited treatment options. A comprehensive understanding of disease progression, management, and healthcare resource utilization is limited, and further research is challenging due to the small population of patients. To address these challenges in conducting PSP research, individuals with PSP were recruited using a multichannel approach tailored specifically to the PSP community. We performed a retrospective observational study using data abstracted from participant medical records collected from multiple patient care centers.
Seventy-two individuals with PSP were eligible for inclusion. On average, 144 medical documents per participant were collected from an average of 2.9 healthcare centers per participant, with a mean study period of 7.9 years. Among participants with a date of symptom onset documented in the medical records, the median time for the onset of the first fall was 2.0 years (IQR 3.2) before diagnosis, the median onset of unsteady gait or gait impairment was 1.2 years (IQR 1.8) before diagnosis, and the median onset of mobility problems was 0.8 years (IQR 1.8) before diagnosis. The most widely utilized healthcare resources, with at least 85% of participants using each of these resources at some point during the disease course, were medications (100%), imaging (99%), assistive devices (90%), supportive care (86%), and surgeries and procedures (85%).
This retrospective study adds to the current understanding of PSP symptoms, comorbidities, and healthcare resource utilization (HRU) across the disease journey. By involving individuals with PSP and their caregivers or legally authorized representatives in the research process, this study was unique in its approach to participant recruitment and enabled individuals to participate in research without the need for travel. We collected medical documents from multiple healthcare centers, allowing for broad data collection covering the entire disease journey. This approach to the collection of real-world data may be used to generate valuable insights into many aspects of disease progression and management in PSP and many other rare diseases.
进行性核上性麻痹（PSP）是一种罕见的神经退行性脑疾病，其病情进展迅速，目前治疗选择有限。由于患者人数较少，对疾病进展、管理和医疗资源利用的全面了解有限，进一步的研究也具有挑战性。为了解决 PSP 研究中存在的这些挑战，我们通过专门针对 PSP 社区的多渠道方法招募了 PSP 患者。我们使用从多个患者护理中心收集的参与者病历中提取的数据进行了回顾性观察性研究。
共有 72 名 PSP 患者符合纳入标准。平均而言，每位参与者从每位参与者的平均 2.9 个医疗中心收集了 144 份医疗文件，每位参与者的平均研究时间为 7.9 年。在病历中有记录症状起始日期的参与者中，首次跌倒的起始时间中位数为诊断前 2.0 年（IQR 3.2），不稳定步态或步态障碍的起始时间中位数为诊断前 1.2 年（IQR 1.8），活动能力问题的起始时间中位数为诊断前 0.8 年（IQR 1.8）。使用最广泛的医疗资源，至少有 85%的参与者在疾病过程中的某个阶段使用了这些资源中的每一种，这些资源包括药物（100%）、影像（99%）、辅助设备（90%）、支持性护理（86%）和手术及程序（85%）。
这项回顾性研究增加了当前对 PSP 症状、合并症和整个疾病过程中的医疗资源利用（HRU）的理解。通过让 PSP 患者及其护理人员或法定授权代表参与研究过程，这项研究在参与者招募方面具有独特的方法，使患者无需旅行即可参与研究。我们从多个医疗中心收集了医疗文件，从而能够广泛收集涵盖整个疾病过程的数据。这种真实世界数据的收集方法可用于深入了解 PSP 及许多其他罕见疾病的疾病进展和管理的许多方面。
