Prospective Longitudinal Study of Neurological Disease Trajectory in Children Living With Late-Infantile or Juvenile Onset of GM1 or GM2 Gangliosidosis
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 31
- 试验地点
- 13
- 主要终点
- Change in the Speech 7-point item score of SARA
研究概览
简要总结
The study aims to characterize prospectively longitudinal progression of neurological domains in GM1 and GM2 Gangliosidosis patients with high-quality standards (GCP compliant).
详细描述
The study is a prospective longitudinal, multicentric decentralized trial which will be performed in children diagnosed with late infantile or juvenile onset of neurological disease of either GM1 or GM2 Gangliosidoses (Tay-Sachs or Sandhoff disease). The study anticipates to include a total of approximately 35 patients. A large set of neurological functions will be evaluated by rating scales used by physicians and questionnaires answered by parents. Digital tools will be used to support the study procedures with virtual visits.
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Prospective
入排标准
- 年龄范围
- 2 Years 至 20 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Genetically confirmed GM1 Gangliosidosis or genetically confirmed Tay-Sachs or Sandhoff disease
- •Onset of neurological symptoms on or after the patient's first birthday
- •Achieved 12-month developmental milestones at normal developmental time points as per Principal Investigator's judgement
- •Abnormal gait and/or speech disturbance
排除标准
- •Patients who have received (within 6 months before screening), are currently receiving or are planned to receive (within the following 6 months) gene therapy, stem cell transplantation, experimental drugs, or any drug, which, in the Investigator´s opinion, may (have) interfere(d) with disease progression
结局指标
主要结局
Change in the Speech 7-point item score of SARA
时间窗: 0-4 years
Score between 0 (better) and 6 (worse) points
Change in the Gait 9-point item score of the Scale for Assessment and Rating of Ataxia (SARA)
时间窗: 0-4 years
Score between 0 (better) and 8 (worse) points
次要结局
未报告次要终点