Independent Studies of Dextromethorphan and of Donepezil Hydrochloride for Rett Syndrome
Pathogenesis of Rett Syndrome: Natural History and Treatment
研究概览
详细说明
RTT is a neurodevelopmental disorder characterized by apparently normal early development followed by loss of purposeful hand use, distinctive hand stereotypies, slowed brain growth, loss of language, respiratory irregularities, GI disturbances, gait abnormalities, seizures, and mental retardation. These symptoms appear between ages 6 and 18 months (stage 2 of the disease) following apparently normal development (stage 1). Subsequently, there is gradual stabilization of severe mental retardation and motor compromise (stage 3). The majority (70% to 80%) of patients demonstrate mutations in the methyl-CpG-binding-protein-2 (MeCP2) gene, a transcription repressor located on chromosome Xq28. The disorder predominantly affects females, but a few males with mutations in MeCP2 have been identified, even though many of them do not have the classic symptoms recognized in females.
Recent studies demonstrate increased brain N-methyl-D-aspartate (NMDA) receptors in stages 2 and 3 of the disease. This age-specific increase in glutamate levels and their receptors contribute to brain damage. This first study will examine the effectiveness of dextromethorphan, an NMDA receptor antagonist, to ameliorate symptoms. Participants will be randomized to receive one of three doses of dextromethorphan. All participants will be admitted to the hospital for three days at the beginning of the study. During the hospitalization, participants will undergo physical exam, Dexascan, MRI, EEG, behavioral assessment, laboratory testing, and neuropsychological evaluations. Six months after baseline assessment, participants will be rehospitalized for 3 days for similar assessments.
Reduction in choline acetyltransferase activity in RTT patients may also contribute to disturbed cortical development and psychomotor retardation in RTT. Therefore, the second part of the study will evaluate the effect of donepezil hydrochloride, an inhibitor of acetylcholine-esterase, on acetylcholine levels. This portion of the study will not begin until pharmacokinetic data for donepezil in children is available.
研究类型
注册
阶段
- 第三阶段
联系人和位置
学习联系方式
- 姓名:SakkuBai R. Naidu, MD
- 电话号码:443-923-2778
研究联系人备份
- 姓名:Barbara Ann Bradford
- 电话号码:443-923-2778
- 邮箱:bradford@kennedykrieger.org
学习地点
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Maryland
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Baltimore、Maryland、美国
- 招聘中
- Kennedy Krieger Institute
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接触:
- SakkuBai R. Naidu, MD
- 电话号码:443-923-2778
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接触:
- Genila Bibat, MD
- 电话号码:443-923-2778
- 邮箱:bibat@kennedykrieger.org
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参与标准
资格标准
适合学习的年龄
接受健康志愿者
有资格学习的性别
描述
Inclusion Criteria
- Diagnosis of Rett syndrome
- Mutation in MeCP2 gene
- Typical EEG abnormalities (disorganized background, frontal central spikes, rhythmic theta)
Exclusion Criteria
- Features of Rett syndrome with absence of MeCP2 mutation
- Non-specific EEG changes
学习计划
研究是如何设计的?
设计细节
- 主要用途:治疗
- 分配:随机化
- 介入模型:阶乘赋值
- 屏蔽:无(打开标签)
合作者和调查者
调查人员
- 首席研究员:SakkuBai R. Naidu, MD、Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
研究记录日期
研究主要日期
学习开始
研究完成
研究注册日期
首次提交
首先提交符合 QC 标准的
首次发布 (估计)
研究记录更新
最后更新发布 (估计)
上次提交的符合 QC 标准的更新
最后验证
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