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• W4317900621 abstract "Abstract Background: Angelman syndrome (AS) is a rare neurodevelopmental disorder with developmental, behavioral, and medical challenges caused by absence of functional UBE3A. AS has unmet treatment needs and no approved therapies address its underlying pathophysiology. To develop new therapies, comprehensive data are needed for identification of appropriate endpoints to assess meaningful improvements. The FREESIAS study evaluated the feasibility and utility of in-clinic and at-home measures of key AS symptoms, and potential biomarkers. Methods: Fifty-five individuals with AS (aged < 5 years: n = 16, 5–12 years: n = 27, ≥ 18 years: n = 12; deletion genotype: n = 40, nondeletion genotype: n = 15) and 20 typically developing children (aged 1–12 years) were enrolled across six USA sites. The study tested several clinical outcome assessments (COAs), overnight electroencephalography (EEG) with 19 leads and additional polysomnography (PSG) sensors, and several digital health technologies (DHTs). Assessments were planned for baseline (Clinic Visit 1) and 12 months later (Clinic Visit 2), and for intermittent home visits. Results: Most COAs had high completion rates, with 89–100% and 76–91% adherence at Clinic Visit 1 and Visit 2, respectively. Feasibility of and adherence to DHTs varied by assessment, and uptake of and/or adherence to some measures was impacted by COVID-19. Bayley-III results were comparable to available natural history data, which show similar scores between individuals aged > 18 and those aged 5–12 years. Better performance was observed on most COAs for participants without a deletion versus those with a deletion. PSG/EEG recordings at home visits were impacted by COVID-19 but otherwise feasible. The AS EEG phenotype of excess delta-band power measured here was consistent with prior reports. Conclusions: While feasible COAs and DHTs were identified based on adherence, improved measures to assess meaningful change in AS are needed. Remote assessment facilitated high adherence levels despite the COVID-19 pandemic and results suggested that at-home PSG/EEG may be a feasible alternative to in-clinic EEG assessments. These data support the selection of COAs for holistically assessing change in interventional clinical trials in AS. A combination of in-clinic and remote/at-home COAs, DHTs, and PSG/EEG can support protocol adherence, reduce patient burden, and optimize study outcomes in rare disease populations such as AS." @default.
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• W4317900621 date "2023-01-24" @default.
• W4317900621 modified "2023-10-17" @default.
• W4317900621 title "Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS)" @default.
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• W4317900621 doi "https://doi.org/10.21203/rs.3.rs-2484857/v1" @default.
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