A Retrospective, Chart Review Study to Evaluate Ocular Disease Progression in Children With Late-infantile Neuronal Ceroid Lipofuscinosis Type 2 (CLN2)
试验速览
- 阶段
- 不适用
- 状态
- 撤回
- 主要终点
- Characterize retinal structural changes in children with CLN2
研究概览
简要总结
This is a multi center, retrospective, chart review study to document the evolution of ocular disease progression in pediatric patients with CLN2.
详细描述
CLN2 is a rare disease with limited available ocular natural history data. While current standard of care slows motor degeneration, it is not known to treat the ocular manifestations of disease. This study is planned to document, through retrospective data collection, ocular disease progression in children with a clinical presentation consistent with CLN2. No investigational product is administered in this retrospective, chart review study.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Retrospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •A participant is eligible to be included in the study only if all of the following criteria apply:
- •The participant's legal guardian(s) is(are) willing and able to provide them written, signed informed consent.
- •The participant has a documented diagnosis of CLN2 disease due to TPP1 deficiency, or has a relative clinically diagnosed with CLN2 disease who has the same CLN2 mutations as the participant
- •The participant has had one or more eye examinations by an eye care specialist at any time since birth.
排除标准
- •No exclusion criteria apply to this study.
结局指标
主要结局
Characterize retinal structural changes in children with CLN2
时间窗: From first available medical chart through informed consent, an average of 10 years
As assessed in by SD-OCT measures in ophthalmic records of children with CLN2
次要结局
- Characterize changes in visual function.(From first available medical chart through informed consent, an average of 10 years)