NCT03999814已完成不适用
A Retrospective Review of the Natural History of Infantile Neuroaxonal Dystrophy
适应症
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 13
- 试验地点
- 1
- 主要终点
- To describe the natural history of infantile neuroaxonal dystrophy (INAD).
研究概览
简要总结
This is a retrospective and cross-sectional review of the natural history of INAD.
详细描述
After obtaining informed consent, the study participants' relevant medical records will be collected and reviewed. If needed, a telephone or video conference will be scheduled with the patient's family to confirm and clarify information in the medical record. Deceased patients may be eligible for inclusion the retrospective registry if medical records are sufficient and indicate eligibility. Data will be pooled and presented in aggregate, without identification of individual subjects.
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Retrospective
入排标准
- 年龄范围
- 18 Months 至 10 Years（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Male or female 18 months to 10 years of age
- •Medical history consistent with the symptoms of classic INAD (onset of symptoms between the ages of 6 months and 3 years)
- •Homozygous for PLA2G6 deficiency (variant alleles may be mixed heterozygotes)
- •Signed informed consent form (ICF) prior to entry into the registry
排除标准
- •Diagnosis of atypical NAD (ANAD)
- •Unwilling or unable to allow medical record review
结局指标
主要结局
To describe the natural history of infantile neuroaxonal dystrophy (INAD).
时间窗: Birth to time of enrollment.
Overall analysis
次要结局
- To look for trends in disease progression of INAD that may be helpful in planning future interventional trials in INAD.(Birth to time of enrollment.)
- Evaluating and potentially validating a Assessment of Severity by Parent or Caregiver questionnaire.(At time of enrollment.)
研究者
研究点 (1)
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