A Combination Retrospective Medical History and Prospective Observational Study of Patients With Canavan Disease for Assessment of Natural History of Canavan Disease
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 67
- 试验地点
- 4
- 主要终点
- To characterize the natural history of Canavan disease
研究概览
简要总结
This study uses medical records that allow retrospective data extraction of critical milestone and motor function data. In addition, prospective assessments collect data relevant to the natural history of Canavan disease in children.
详细描述
The CANinform natural history study is the first multinational effort to rigorously gather both retrospective and prospective data from this patient population. Data collection includes extraction of retrospective data from medical records of living and deceased patients, and collection of prospective, longitudinal data from living patients and their parent(s)/caregiver(s). Motor function assessments are performed remotely in the home via video or in the clinic by qualified study team members. Families will be invited to attend clinic visits and/or will be followed remotely by the clinical site for approximately 3 years.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Meet age criteria of a specific cohort.
- •Confirmed clinical and biochemical diagnosis of Canavan disease.
- •Available medical records since birth that permit documentation of disease characteristics and developmental milestones.
- •Parent and/or legal guardian is able to read, understand, and sign the informed consent.
排除标准
- •1. Patient does not meet the Inclusion Criteria.
研究组 & 干预措施
Cohort 4 (Age > 5 Years)
- Motor function assessments (remote or in-clinic) 12 months
- Clinic assessments every 12 months
Cohort 5 (Deceased)
• The patient's medical history records will be reviewed. In addition, a parent interview will be performed.
Cohort 2 (Age ≥ 18 Months - 3 Years)
- Motor function assessments (remote or in-clinic) every 4 months
- Clinic assessments every 6 months
Cohort 1 (Age < 18 Months)
- Motor function assessments (remote or in-clinic) every 2 months
- Clinic assessments every 6 months
Cohort 3 (Age > 3 - 5 Years)
- Motor function assessments (remote or in-clinic) every 6 months
- Clinic assessments every 6 months
结局指标
主要结局
To characterize the natural history of Canavan disease
时间窗: approximately 3 years
To enhance the understanding of the natural history of Canavan disease through retrospective data collection from patient medical records and prospective data collection from living patients, including: phenotypic characteristics and variability, genotype characteristics and variability, and disease progression and natural history.
次要结局
未报告次要终点