Clinical Trials in Rett Syndrome Conference

Rett综合征的临床试验：早期干预的可能性(国际研讨会) 拟于2005年6月30日至7月在巴尔的摩的柱廊酒店举行。研讨会的目标是：(1)评估Rett综合征(RTT)临床试验和早期干预的最新研究；(2)为代表世界各地主要RTT研究中心的参与者之间积极交流RTT诊断和治疗方面的科学信息提供一个论坛；(3)找出目前知识有限的领域；以及(4)提供建议，并促进RTT临床试验和相关问题的未来研究。 研讨会的主题包括：(1)RTT治疗的神经科学基础，(2)RTT的早期识别，(3)生理学、神经学、神经成像和行为结果测量，(4)药理学和非药理学干预，(5)RTT临床试验的经验，以及(6)RTT临床试验中的遗传学和其他特定问题。 RTT是一种严重的发育障碍，主要影响女性，其特点是 认知障碍、自闭症行为、刻板动作和呼吸紊乱。这个 MeCP2编码区突变的发现开启了临床和神经生物学研究的新纪元，MeCP2作为一种与60-80%RTT患者相关的遗传异常。在少数报道的Rett综合征(RTT)临床试验中，只有一项正在进行的叶酸和甜菜碱研究利用了这一新的遗传信息。因此，拟议的研讨会非常及时。会议的形式将通过在正式发言的基础上增加两个总结圆桌会议来促进对专题的讨论。这次研讨会的一个预期成果是制定新的研究项目，包括 多中心合作，这将推进RTT的临床试验领域。会议记录将发表在神经学杂志上，报告将以1：0的比例传达给公共和私人资助机构。

Clinical Trials in Rett Syndrome: Potential for Early Intervention (An International Workshop) to be held at the Inn at the Colonnade in Baltimore, June 30-July, 2005, is proposed. The objectives of the workshop are: (1) to assess the present state-of-the-art research in clinical trials and early intervention in Rett syndrome (RTT), (2) to provide a forum for an active exchange of scientific information, regarding RTT diagnosis and treatment, between participants representing major RTT research centers throughout the world, (3) to identify areas in which current knowledge is limited, and (4) to provide recommendations as well as to stimulate future research on clinical trials, and related issues, in RTT. Topics to be covered by the workshop include: (1) Neuroscientific bases of RTT treatment, (2) early identification of RTT, (3) physiologic, neurologic, neuroimaging, and behavioral outcome measures, (4) pharmacological and non-pharmacological interventions, (5) experience in clinical trials in RTT, and (6) genetic and other specific issues in clinical trials in RTT. RTT is a severe developmental disorder, affecting predominantly females and characterized by cognitive impairment, autistic behavior, stereotypic movements, and respiratory irregularities. The demonstration of mutations in the coding region ofMeCP2, as the genetic abnormality associated with 60-80% of RTT patients, has initiated a new era of clinical and neurobiologic research on this disorder. Of the small number of reported clinical trials in Rett syndrome (RTT), only an ongoing study of folate and betaine takes advantage of this new genetic information. Consequently, the proposed workshop is quite timely. The format of the conference will promote discussion of the topics, by adding to the formal presentations two concluding roundtables. An expected outcome of this workshop is the development of new research projects, including multi-center collaborations, which will advance the area of clinical trials in RTT. Proceedings of the conference will be published in a neurology journal and a report will be communicated 1:0 public and private funding agencies.