The development of the Clinical Picture Maker, a novel video platform to aid the diagnosis and treatment of SCN2A-related disorders, and other rare diseases.

开发了 Clinical Picture Maker，这是一个新型视频平台，可帮助诊断和治疗 SCN2A 相关疾病和其他罕见疾病。

• 批准号: 10759930
• 负责人: Louise Mary Tiranoff
• 金额: $ 32.19万
• 依托单位: TIRANOFF PRODUCTIONS, LLC
• 依托单位国家: 美国
• 财政年份: 2023
• 资助国家: 美国
• 起止时间: 2023-09-15 至 2024-07-14
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10759930
• 关键词: Acceleration; Address; Affect; Agreement; Ambulatory Care Facilities; American; Angelman Syndrome; Arts; Autonomic Dysfunction; Award; Businesses; Caregivers; Caring; Cellular Phone; Child; Clinic; Clinical; Clip; Collection; Computer software; Control Groups; Data; Databases; Diagnosis; Diagnostic; Disease; Documentation; Early identification; Education; Educational process of instructing; Elements; Face; Family; Film; Focus Groups; Funding; Future; Genes; Goals; Health Professional; Individual; Interview; Knowledge; Learning; Life; Medical; Medical Students; Modeling; Motivation; Movement Disorders; Multimedia; Neurodevelopmental Disorder; New York; Outcome; Pain; Parents; Participant; Patients; Persons; Phase; Population; Process; Production; Publishing; Randomized; Rare Diseases; Research Personnel; Resources; Sampling; Schools; Screening procedure; Seizures; Small Business Innovation Research Grant; Small Business Technology Transfer Research; Software Tools; Structure; Students; Surveys; Symptoms; System; Tail; Testing; Text; Training; Universities; Variant; Visual; autism spectrum disorder; clinical development; college; commercial application; design; developmental disease; disease diagnosis; effectiveness evaluation; experience; group intervention; improved; innovation; medical schools; novel; phase 1 study; provider communication; recruit; scale up; tool; web app; web platform; web site

ABSTRACT This STTR application proposes a new platform, the Clinical Picture Maker, which aims to facilitate the production, organization, and dissemination of video documentation that can improve the diagnosis and treatment of rare and difficult to diagnose disorders. At present, people with rare disorders and their caregivers often face a 5+ year search for a diagnosis, which can lead to serious complications and suffering. There are more than 10,000 identified rare diseases. Clinicians are unfamiliar with most of them and therefore have difficulty recognizing the symptoms. Text descriptions are available but do not fully convey the visual signs and complexities. For nearly 3 decades, GeneticaLens (GL) has produced video databases and tools to help solve these problems. With SBIR awards on Angelman Syndrome and autism, GL developed a system of filming, editing, validating and disseminating video segments and screening tools, which has helped healthcare professionals recognize these disorders and provide appropriate care. This project makes it possible to scale the system, so that more rare disorders can benefit from video through the creation of the Clinical Picture Maker, a streamlined set of tools for producing video documentation of rare diseases. They include: 1) the DAYTool, a web app that teaches people with rare disorders and their caregivers to use their smartphones to record and upload videos of symptoms and daily life and 2) the Rare Disorder Video Lexicon (Lexicon), a searchable, ever-expanding collection of videos uploaded using the DAYTool. In Phase I, GL, in partnership with New York University, will test the use of the Clinical Picture Maker with a group of parents whose children have rare developmental disorders related to variations in the SCN2A gene. These disorders cause severe seizures, movement disorders, autonomic dysfunction and autism. A group of parents of children with the SCN2A will use the DAYTool to film their children and upload the video to the Clinical Picture Maker database. With guidance from GL and SCN2A experts, NYU graduate film students will edit the video, add key words and expert interviews, and organize the video into the Lexicon. GL will then evaluate whether the videos uploaded using the DAYTool will be effective in helping a group of clinicians and residents at NYU’s medical school learn to recognize and distinguish between the key symptoms of SCN2A-related disorders. Average number of correctly identified symptoms between a group of clinicians viewing educational videos and a group viewing only text, will be contrasted using a two-sample t test. With groups of twenty participants, we will have 0.80 power to detect Cohen’s d of 0.91, corresponding to a large effect size. In Phase II, GL will include other rare neurodevelopmental disorders that cause similar symptoms, creating a comprehensive resource on this group of disorders and the first iteration of the Lexicon. The long-term goal is widespread use of the DAYTool for patients and parents to communicate with clinicians and researchers as well as a more complete Lexicon available by subscription to clinics and medical schools.

抽象的 此STTR应用程序提出了一个新平台，即临床图片制造商，旨在促进 视频文档的生产，组织和传播，可以改善诊断和 治疗罕见且难以诊断疾病。目前，患有少数疾病的人及其照顾者 通常面临5年以上的诊断搜索，这可能导致严重的并发症和痛苦。有 超过10,000多个罕见疾病。临床医生不熟悉其中的大多数，因此 很难识别症状。文本说明可用，但不能完全传达视觉标志和 复杂性。近三十年来，遗传（GL）生产了视频数据库和工具来帮助解决 这些问题。由于SBIR关于Angelman综合征和自闭症的奖项，GL开发了一种拍摄系统， 编辑，验证和传播视频片段和筛选工具，这有助于医疗保健 专业人士认识到这些疾病并提供适当的护理。这个项目可以扩展 该系统，使更多罕见的疾病可以通过创建临床图片从视频中受益 Maker，一种简化的工具，用于生产稀有疾病的视频文档。它们包括：1） DayTool，一种网络应用程序，它教导患有少数疾病及其护理人员的人使用智能手机 记录和上传符号和日常生活的视频以及2）罕见疾病视频词典（词典），一个 可搜索的，不断扩展的视频集合使用DayTool上传。在第一阶段，GL，合作 与纽约大学一起，将测试一群父母的临床画家的使用 具有与SCN2A基因变化有关的罕见发育障碍。这些疾病导致严重 癫痫发作，运动障碍，自主功能障碍和自闭症。一群孩子的父母 SCN2A将使用DayTool拍摄他们的孩子，并将视频上传到临床图片制造商数据库中。 在GL和SCN2A专家的指导下，纽约大学研究生电影学生将编辑视频，添加关键词和 专家采访，并将视频组织到词典中。然后，GL将评估视频是否已上传 使用DayTool将有效地帮助纽约大学医学院的一群临床医生和居民学习 识别和区分SCN2A相关疾病的关键症状。平均数量 正确识别观看教育视频的一组临床医生之间的症状与观看小组观看 只有文本将使用两样本t检验对比。与二十名参与者组成的小组，我们将有0.80 检测Cohen D为0.91的功率，对应于较大的效果大小。在第二阶段，GL将包括其他罕见的 引起类似症状的神经发育障碍，为该组创造了全面的资源 疾病和词典的第一次迭代。长期目标是宽度使用日间工具 患者和父母与临床医生和研究人员以及更完整的词典进行沟通 可订阅诊所和医学院。