Suzanne Leigh, UC San Francisco
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一款智能手机应用可以让更多的人参与额颞叶痴呆(FTD)患者的临床试验, 一种毁灭性的神经紊乱,常在中年出现.
由于早期诊断问题和难以追踪人们对治疗的反应,对这种疾病的研究一直受到阻碍,这些治疗只可能在疾病的早期阶段有效.
To address this, 由正规欧洲杯买球网站旧金山分校领导的一个研究小组通过一款移动应用程序进行了认知测试,发现它可以在基因上易患这种疾病但尚未出现症状的人身上检测到FTD的早期迹象. 这些测试至少和在诊所做的神经心理学评估一样敏感.
The study appears in JAMA Network Open on April 1, 2024.
30多个FTD临床试验正在进行或处于计划阶段, 包括一种可能成为第一种被批准减缓某些基因携带者病情进展的药物. 研究人员希望新的移动技术能加快这项工作.
“Eventually, 该应用程序可用于监测治疗效果, 取代许多或大部分临床试验现场的亲自访问,” said first author Adam Staffaroni, PhD, 临床神经心理学家和副教授在UCSF神经病学和 Weill Institute for Neurosciences.
FTD is not easy to diagnose
FTD is the No. 60岁以下患者痴呆症的主要原因之一,高达30%的病例归因于遗传. 它有三种主要的变体,症状可能重叠. 最常见的是导致戏剧性的性格转变, which may manifest as lack of empathy, apathy, impulsivity, compulsive eating, 以及社交和性方面的不当行为. Another affects movement, and a third impacts speech, language and comprehension, 据说布鲁斯·威利斯的变种是什么. In rare cases, FTD triggers bursts of visual creativity.
As with Alzheimer’s disease, 据信,FTD患者对早期治疗反应最好, ideally before their symptoms even emerge. “大多数FTD患者的诊断相对较晚, because they are young, 他们的症状被误认为是精神疾病,” said senior author Adam Boxer,医学博士,正规欧洲杯买球网站旧金山分校神经内科记忆与衰老特聘教授.
“我们从一些家庭那里听说,他们经常在医生同意诊断之前很久就怀疑自己的亲人患有FTD,” said Boxer, 他也是正规欧洲杯买球网站旧金山分校阿尔茨海默病和额颞叶痴呆临床试验项目的主任.
一种能检测出计划能力衰退的软件
研究人员对360名平均年龄为54岁的参与者进行了跟踪调查 ALLFTD centers and UCSF. About 90% had data on disease stage. 其中60%的人没有FTD,或者是尚未出现症状的基因携带者, 20%有早期症状,21%有症状.
斯塔法罗尼和博克瑟与软件公司Datacubed Health合作, which developed the platform, to include tests of executive function, such as planning and prioritizing, 过滤干扰,控制冲动. In FTD, 随着疾病的发展,大脑中负责执行功能的部分会萎缩.
The rich data collected by the app, including voice recordings and body movements, 使研究人员能够开发新的测试,最终可以帮助早期诊断和监测症状.
“我们开发了在参与者进行几个不同测试时记录语音的功能,” said Staffaroni. “We also created tests of walking, balance and slowed movements, as well as different aspects of language.”
FTD研究人员表示,他们正在接近找到可能最终减缓疾病进展的治疗方法, which is fatal. These include gene and other therapies, such as antisense oligonucleotides (ASOs), 增加或减少基因携带者体内异常蛋白质的产生.
尽管目前还没有向公众开放这款应用的计划, it could be a boon to research.
“一个主要障碍是缺乏可以容易收集的结果测量,并且在疾病的早期阶段对治疗效果很敏感,” said Staffaroni. “我们希望智能手机评估将促进有希望的疗法的新试验.”
Co-Authors: Please see the paper.
Funding: NIH grants AG063911, AG077557, AG62677, AG045390, NS092089, AG032306, AG016976, AG058233, AG038791, AG02350, AG019724, AG062422, NS050915, AG032289-11, AG077557, K23AG061253, and K24AG045333; the Association for Frontotemporal Degeneration; the Bluefield Project to Cure FTD; the Rainwater Charitable Foundation; and grant 2014-A-004-NET from the Larry L. Hillblom Foundation.
Disclosures: Please see the paper.