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Abstract：
The design and conduct of clinical studies to evaluate the effects of novel therapies on central nervous system manifestations in children with neuronopathic mucopolysaccharidoses is challenging. Owing to the rarity of these disorders, multinational studies are often needed to recruit enough patients to provide meaningful data and statistical power. This can make the consistent collection of reliable data across study sites difficult. To address these challenges, an International MPS Consensus Conference for Cognitive Endpoints was convened to discuss approaches for evaluating cognitive and adaptive function in patients with mucopolysaccharidoses. The goal was to develop a consensus on best practice for the design and conduct of clinical studies investigating novel therapies for these conditions, with particular focus on the most appropriate outcome measures for cognitive function and adaptive behavior. The outcomes from the consensus panel discussion are reported here.
摘要：
设计和实施临床研究以评估新疗法对神经特发性粘多糖症患儿中枢神经系统表现的影响具有挑战性。由于这些疾病的罕见，通常需要跨国研究来招募足够的患者以提供有意义的数据和统计能力。这可能使跨研究地点的可靠数据的一致收集变得困难。为了应对这些挑战，召开了国际MPS认知终点共识会议，讨论评估粘多糖病患者认知和适应功能的方法。目标是就设计和实施研究这些疾病的新疗法的临床研究的最佳实践达成共识。特别关注认知功能和适应行为的最合适的结果测量。此处报告了共识小组讨论的结果。
