Addendum To: Study protocol of the HD-MED study aiming to personalize drug treatment in Huntington’s disease: a longitudinal, observational study to assess medication use and efficacy in relation to pharmacogenetics

附录:HD-MED 研究方案,旨在实现亨廷顿病药物治疗的个体化:一项纵向观察性研究,旨在评估药物使用和疗效与药物遗传学的关系

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Abstract

On September 27, 2023, the CureSHANK nonprofit foundation sponsored a conference in Boston, Massachusetts, to identify gaps in knowledge surrounding SHANK3-related epilepsy with the goal of determining future research priorities and recommendations. In addition to patient families and members of the CureSHANK community, participants in the conference included a broad cross-section of preclinical and clinical researchers and clinicians with expertise in SHANK3-related epilepsy as well as representatives from the pharmaceutical industry. Here we summarize the outcomes from comprehensive premeeting deliberations and the final conference recommendations, including (1) gaps in knowledge related to clinical science, (2) gaps in knowledge related to preclinical science, and (3) research priorities moving forward.

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