Developing therapeutics for the treatment of rare diseases usually requires a strong understanding of the natural history of the disease. Often, it also requires the creation of novel assessment tools and clinical trial endpoints. In diseases where mobility is impacted, the use of video to capture the impact of the disease and the assessment of specific parameters, such as gait and stride length, can help design sensitive endpoints. Video as an assessment tool also allows the use of historical videos or videos filmed by non-experts outside of clinical settings. Given the increased use of telemedicine, the use of video may be a useful addition to clinical trial assessments. Two cases are presented: (1) the use of video in the development of asfotase alfa (Strensiq®) in hypophosphatasia is detailed as an example of the utility of this type of assessment in rare diseases; and (2) a home-setting video tool that was developed and validated (SARAhome) from a commonly used clinical scale (Scale for the Assessment and Rating of Ataxia [SARA]), allowing patients to record their own severity of ataxia. While there are certain limitations associated with video assessment, advancing technologies such as automated analysis and machine learning provide a tremendous opportunity for automated analysis of video recordings, reducing the bias associated with human assessment.
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