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. - 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.
