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Natural History Study

$1,615,607 2022

Natural History Study

Wen-Hann Tan, MD

The overall goal of the NHS is to support the Angelman syndrome community by: 1) Seeking answers to questions pertaining to the clinical management and care of children and adults with Angelman syndrome, such as the types and frequency of various medical complications (e.g., constipation, seizures, and sleep disorders), medications that have been used, behavioral challenges, and developmental trajectories, 2) Providing foundational longitudinal data that can be used in the design of clinical trials by pharmaceutical companies that are developing therapies for Angelman syndrome; the longitudinal nature of these data will also allow these companies to assess the "pre-treatment" trajectories of the various developmental skills and hence the potential efficacy of their therapeutic compounds when submitting their data to the FDA to request regulatory approval for these compounds. The current outcome measures, obtained annually through a secure online portal, virtual visits, and in-person evaluations, include assessments of neurodevelopment, behavior, and medical complications, including seizures, sleep, and gastrointestinal issues.

FT2022-006