Clinical Trials in Rett Syndrome Conference

Rett综合征的临床试验：早期干预的潜力（国际研讨会） 2005年6月30日至7月在巴尔的摩的柱廊旅馆举行。讲习班的目标是：（1）评估Rett综合征（RTT）临床试验和早期干预的最新研究水平，（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有关RTT诊断和治疗的科学信息提供论坛，（3）确定当前知识有限的领域，以及（4）提供建议，以及刺激未来的研究，临床试验，和相关问题，在RTT。 研讨会将涵盖的主题包括：（1）RTT治疗的神经科学基础，（2）RTT的早期识别，（3）生理，神经，神经影像和行为结果测量，（4）药理学和非药理学干预，（5）RTT临床试验的经验，以及（6）RTT临床试验中的遗传和其他具体问题。 RTT是一种严重的发育障碍，主要影响女性，其特征是 认知障碍、自闭症行为、刻板动作和呼吸不规则。的 MeCP 2基因编码区突变的发现，为临床和神经生物学研究开辟了新的领域，该基因异常与60-80%的RTT患者相关。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，拟议的讲习班非常及时。会议的形式将促进对专题的讨论，在正式发言之外增加两个最后圆桌会议。该讲习班的一个预期成果是制定新的研究项目，包括 多中心合作，这将推动RTT的临床试验领域。会议记录将发表在神经病学杂志上，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.