A Study in Subjects With Neuronal Ceroid Lipofuscinoses Taking Trehalose
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 8
- 试验地点
- 1
- 主要终点
- Change from Baseline clinical status assessed using Annex VII of the Unified Batten Disease Rating Scale (UBDRS) (score 0-5 where 5 is the worst outcome) at 12 and 24 months
研究概览
简要总结
Neuronal Ceroid Lipofuscinoses (NCL) or Batten's disease are the most common juvenile neurodegenerative disease, characterized by early blindness, movement disorders, cognitive and behavioral impairment, epilepsy, and retinopathy.
This study aims to collect clinical and laboratory data of patients with NCL taking Trehalose.
详细描述
This study aims to collect clinical and laboratory data of patients with NCL taking Trehalose.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Prospective
入排标准
- 年龄范围
- 7 Years 至 45 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •NCL genetic diagnosis (mutation in genes CLN3 or CLN6)
- •Signed informed consent
排除标准
- •Other concomitant neurodegenerative diseases.
- •Therapeutic and eating changes in the last four months prior to the study
- •Unstable clinical conditions (myoclonus worsening, instability in sleep, parenteral nutrition)
- •Refusal to sign the informed consent
结局指标
主要结局
Change from Baseline clinical status assessed using Annex VII of the Unified Batten Disease Rating Scale (UBDRS) (score 0-5 where 5 is the worst outcome) at 12 and 24 months
时间窗: month 0, month 12, month 24
Blood samples
次要结局
- Change from Baseline using Annex VII of Unified Batten Disease Rating Scale (UBDRS) (score 0-5 where 5 is the worst outcome) at 12 and 24 months(month 0, month 12, month 24)
研究者
Filippo Maria Santorelli
Director Molecular Medicine, Neurogenetics and Neuromuscular Disorders
IRCCS Fondazione Stella Maris