A Prospective, Observational Study to Evaluate Ocular Disease Progression in Children With CLN2 Batten Disease
试验速览
- 阶段
- 不适用
- 状态
- 撤回
- 主要终点
- Change in retinal structure in children with CLN2 Batten disease
研究概览
简要总结
This is a prospective, longitudinal natural history study to document the progression of ocular manifestations of CLN2 disease among a community-dwelling population of pediatric participants affected by this disease.
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 prospective data collection, ocular disease progression in children with a clinical presentation consistent with CLN2 Batten disease undergoing current standard of care for their condition. No investigational product is administered in this observational study.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Prospective
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:
- •His or her legal guardian(s) is(are) willing and able to provide them written, signed informed consent.
- •Has documented diagnosis of CLN2 disease due to TPP1 deficiency, or has a relative clinically diagnosed with CLN2 with the same mutation as the participant
- •Is currently receiving biweekly ERT treatment with cerliponase alfa
排除标准
- •A participant is excluded from the study if any of the following criteria apply:
- •Has had prior treatment with an adeno-associated virus-based AAV gene therapy
- •Is currently participating in a clinical trial of investigational product for the treatment of CLN2 disease
结局指标
主要结局
Change in retinal structure in children with CLN2 Batten disease
时间窗: 96 weeks
As assessed by SD-OCT measures over time.
次要结局
- Change in visual function(96 weeks)