Department of Dermatology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States.
Department of Dermatology, Harvard Medical School, Boston, MA, United States.
JMIR Mhealth Uhealth. 2022 Aug 10;10(8):e38331. doi: 10.2196/38331.
Large gaps exist in understanding the symptomatic and functional impact of sarcoidosis, a rare multisystem granulomatous disease affecting fewer than 200,000 individuals in the United States. Smartphones could be used for prospective research, especially for rare diseases where organizing large cohorts can be challenging, given their near ubiquitous ownership and ability to track objective and subjective data with increasingly sophisticated technology.
We aimed to investigate whether smartphones could assess the quality of life (QoL) and physical activity of a large cohort of individuals with sarcoidosis.
We developed a mobile app (Sarcoidosis App) for a prospective, cross-sectional study on individuals with sarcoidosis. The Sarcoidosis App was made available on both Apple and Android smartphones. Individuals with sarcoidosis were recruited, consented, and enrolled entirely within the app. Surveys on sarcoidosis history, medical history, and medications were administered. Patients completed modules from the Sarcoidosis Assessment Tool, a validated patient-reported outcomes assessment of physical activity, fatigue, pain, skin symptoms, sleep, and lungs symptoms. Physical activity measured by smartphones was tracked as available.
From April 2018 to May 2020, the App was downloaded 2558 times, and 629 individuals enrolled (404, 64.2% female; mean age 51 years; 513, 81.6% White; 86, 13.7% Black). Two-thirds of participants had a college or graduate degree, and more than half of them reported an income greater than US $60,000. Both QoL related to physical activity (P<.001, ρ=0.250) and fatigue (P<.01, ρ=-0.203) correlated with actual smartphone-tracked physical activity. Overall, 19.0% (98/517) of participants missed at least 1 week of school or work in an observed month owing to sarcoidosis, and 44.4% (279/629) reported that finances "greatly" or "severely" affected by sarcoidosis. Furthermore, 71.2% (437/614) of participants reported taking medications for sarcoidosis, with the most common being prednisone, methotrexate, hydroxychloroquine, and infliximab. Moreover, 46.4% (244/526) reported medication side effects, most commonly due to prednisone.
We demonstrate that smartphones can prospectively recruit, consent, and study physical activity, QoL, and medication usage in a large sarcoidosis cohort, using both passively collected objective data and qualitative surveys that did not require any in-person encounters. Our study's limitations include the study population being weighted toward more educated and wealthier individuals, suggesting that recruitment was not representative of the full spectrum of patients with sarcoidosis in the United States. Our study provides a model for future smartphone-enabled clinical research for rare diseases and highlights key technical challenges that future research teams interested in smartphone-based research for rare diseases should anticipate.
美国有不到 20 万人患有罕见的多系统肉芽肿性疾病——结节病，但人们对其症状和功能影响的了解仍存在较大差距。智能手机可用于前瞻性研究，尤其是在组织大型队列方面具有挑战性的罕见疾病，因为智能手机几乎无处不在，并且能够利用日益复杂的技术来跟踪客观和主观数据。
我们旨在研究智能手机是否可以评估大量结节病患者的生活质量（QoL）和身体活动。
我们为结节病患者开发了一款移动应用程序（Sarcoidosis App），用于一项前瞻性、横断面研究。Sarcoidosis App 可在苹果和安卓智能手机上使用。通过该应用程序招募、同意并纳入所有结节病患者。对结节病病史、医疗史和用药情况进行了调查。患者完成了 Sarcoidosis Assessment Tool 的模块，该工具是一种经过验证的评估身体活动、疲劳、疼痛、皮肤症状、睡眠和肺部症状的患者报告结果的工具。智能手机跟踪的身体活动数据作为可用数据进行跟踪。
从 2018 年 4 月到 2020 年 5 月，该应用程序下载了 2558 次，共有 629 人注册（404 人，64.2%为女性；平均年龄 51 岁；513 人，81.6%为白人；86 人，13.7%为黑人）。三分之二的参与者拥有大学或研究生学历，超过一半的人报告收入超过 60000 美元。与身体活动相关的 QoL（P<.001，ρ=0.250）和疲劳（P<.01，ρ=-0.203）均与实际的智能手机跟踪的身体活动相关。总体而言，19.0%（98/517）的参与者在观察月中因结节病至少错过 1 周的学校或工作，44.4%（279/629）报告财务状况因结节病“严重”或“极其”受到影响。此外，71.2%（437/614）的参与者报告正在服用治疗结节病的药物，最常见的是泼尼松、甲氨蝶呤、羟氯喹和英夫利昔单抗。此外，46.4%（244/526）的参与者报告了药物副作用，最常见的是泼尼松引起的副作用。
我们证明了智能手机可以前瞻性地招募、同意并研究大量结节病患者的身体活动、QoL 和用药情况，同时使用被动收集的客观数据和不需要任何面对面接触的定性调查。我们的研究存在一定局限性，包括研究人群偏向于受教育程度更高和更富裕的个体，这表明招募并未代表美国所有结节病患者的全部情况。我们的研究为未来利用智能手机进行罕见病临床研究提供了模型，并突出了未来对利用智能手机进行罕见病研究的研究团队应预期的关键技术挑战。
