NCT03034512终止不适用
Natural History Study of Alpers Huttenlocher Syndrome
适应症
试验速览
- 阶段
- 不适用
- 状态
- 终止
- 入组人数
- 2
- 试验地点
- 2
- 主要终点
- onset age
研究概览
简要总结
This is a natural history study of Alpers Huttenlocher Syndrome. Patients will be followed over time to assess clinical symptoms for the purpose of expanding knowledge of this disorder in the medical community.
详细描述
The study team will conduct outpatient visits to the medical center on a 6 month basis, or as patients are able. The patients or their caregivers will complete medical and symptom questionnaires.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •All individuals of any age with confirmed Alpers Huttenlocher Syndrome (AHS) or siblings of confirmed AHS patients are eligible to participate. AHS requires the presence of polymerase gamma 1 (POLG) pathological mutations, either homozygous or compound heterozygote mutations, and the presence of epilepsy and either, developmental regression or hepatopathy. If POLG mutations are not demonstrated, AHS requires the presence of refractory seizures, developmental regression, and hepatopathy as well as two or more other clinical and laboratory findings including elevated cerebrospinal fluid (CSF) protein, neuroimaging showing lactate peaks, reduced N-acetyl aspartate with hyperintensities on T2/FLAIR in the thalamus and posterior head regions, optic atrophy/cortical blindness, quantitative mtDNA reduction (>30% ) in muscle and/or liver, non-specific electron transport chain (ETC) enzyme deficiencies.
- •All patients must agree to participate in the North American Mitochondrial Disease Consortium (NAMDC) Clinical Registry
排除标准
- •Patient does not have confirmed AHS and is not the sibling of a patient with confirmed AHS
- •Not willing to participate in the NAMDC clinical Registry
结局指标
主要结局
onset age
时间窗: 2 years
age at onset of first symptom versus POLG mutation type
次要结局
未报告次要终点
研究者
Michio Hirano, MD
Professor of Neurology
Columbia University
研究点 (2)
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