An Observational Study in Subjects With Spastic Paraplegia Type 11 Taking Trehalose
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 13
- 试验地点
- 1
- 主要终点
- Changes from baseline in Spastic Paraplegia Rating Scale (SPRS) at 6 and 12 months
研究概览
简要总结
Hereditary spastic paraparesis type 11 (SPG11) is caused by mutations in the SPG11 gene that produces spatacsin, a protein involved in lysosomal function.
详细描述
Several experiments on subjects affected by neurodegenerative diseases with dysfunction of the autophagic-lysosomal system show that trehalose improves the pathological phenotype. This evidence indicates that trehalose could be used in patients with SPG11 to try to prevent the accumulation of glycosphingolipids at the lysosomal level and induce the genesis of new lysosomes. This study aims to record clinical data of 20 patients with SPG11 who take trehalose during 12 months.
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
- 10 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Confirmed diagnosis of SPG11
- •Written signed informed consent
排除标准
- •Diagnosis of other concomitant neurodegenerative diseases
- •taking other experimental drugs within 30 days of the first Study visit (T0) and during the study
- •Refusal to sign informed consent
结局指标
主要结局
Changes from baseline in Spastic Paraplegia Rating Scale (SPRS) at 6 and 12 months
时间窗: At baseline, month 6, month 12
Assess changes in score of the Spastic Paraplegia Rating Scale (SPRS) over ± 10%
次要结局
- Changes in glycosphingolipids and gangliosides plasmatic levels(At baseline, month 6, month 12)
研究者
Filippo Maria Santorelli
Director Molecular Medicine, Neurogenetics and Neuromuscular Disorders
IRCCS Fondazione Stella Maris