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A Prospective Natural History Study Protocol for Clinical Trial Readiness in Synaptic Disorders.

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    This study outlines a framework for understanding STXBP1-Related Disorder and SYNGAP1-Related Disorder natural history. Data reveal disease-specific patterns, aiding clinical trial readiness for these genetic epilepsy conditions.

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    Area of Science:

    • Neuroscience
    • Genetics
    • Developmental Biology

    Background:

    • STXBP1-Related Disorder (STXBP1-RD) and SYNGAP1-Related Disorder (SYNGAP1-RD) are common genetic synaptopathies causing epilepsy, developmental delay, and intellectual disability.
    • Limited natural history data for STXBP1-RD and SYNGAP1-RD hinder the selection of outcome measures for disease-modifying therapies.
    • Understanding the clinical spectrum and longitudinal trajectories is crucial for advancing therapeutic development.

    Purpose of the Study:

    • To establish a framework for defining the clinical spectrum and longitudinal natural history of STXBP1-RD and SYNGAP1-RD.
    • To outline developmental, behavioral, seizure, and electrophysiological trajectories for these disorders.
    • To improve clinical trial readiness by generating gene/disorder-specific data.

    Main Methods:

    • Developed protocols and regulatory structures for multi-center, prospective natural history studies (STARR for STXBP1-RD, ProMMiS for SYNGAP1-RD).
    • Incorporated gold-standard clinician and parent-reported outcome measures, including developmental scales and epilepsy history reconstruction.
    • Enrolled 164 individuals with STXBP1-RD and 159 with SYNGAP1-RD, with ongoing longitudinal assessments.

    Main Results:

    • Existing developmental measures are feasible and informative with minimal floor/ceiling effects.
    • Medical record-based seizure history reconstruction effectively captures epilepsy trajectories with reduced family burden.
    • Disease-specific developmental patterns and distinct seizure dynamics were observed, emphasizing the need for gene/disorder-specific data.

    Conclusions:

    • A feasible natural history protocol with prospective data has been established for STXBP1-RD and SYNGAP1-RD.
    • The developed framework and collected data support expedited clinical trial development for these neurodevelopmental disorders.
    • This work addresses the previously incomplete characterization of these conditions, paving the way for therapeutic advancements.