Protocol RT001-009: A Natural History Study of Infantile Neuroaxonal Dystrophy
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 43
- 试验地点
- 5
- 主要终点
- INAD Mortality
研究概览
简要总结
This study is a longitudinal and prospective study of the natural history of infantile neuroaxonal dystrophy (INAD).
详细描述
After obtaining informed consent, the study participants' relevant medical records will be collected and reviewed for this study. Next, a clinic visit will be scheduled with the patient's family and an observing MD/DO/MBBS from a sponsor site to confirm and clarify information in the medical records.
A baseline evaluation of clinical status will also be performed during this visit to serve as visit one in this longitudinal, prospective natural history study. Subsequent visits will take place every 6 months, for up to 24 months. Key components of this prospective study at each visit include a neurodevelopment exam tailored for INAD, application of the CHOP-INTEND neurodevelopment scale, the Hammersmith infant neurological examination and the modified Ashworth spasticity scale as well as collection of monthly parental severity scoring and monthly home videos of activities of daily living (ADLs).
Data from this study 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
- Cohort
- 时间视角
- Prospective
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 or compound heterozygous PLA2G6 variants
- •Signed informed consent form (ICF) prior to entry into the registry
排除标准
- •Diagnosis of atypical NAD (ANAD)
- •Additional underlying diagnosis with features that overlap with INAD
- •Unwilling or unable to allow medical record review
- •Unwilling or unable to participate in serial assessments every 6 months (including deceased patients)
结局指标
主要结局
INAD Mortality
时间窗: 1-2 years of follow-up is planned
Overall analysis
次要结局
- INAD morbidity(1-2 years of follow-up is planned)
- INAD Morbidity(1-2 years of follow-up is planned)