Phase 2 Pharmacological Trial to Evaluate the Safety of Miglustat Administration in Subjects With Spastic Paraplegia 11 (TreatSPG11)
试验速览
- 阶段
- 2 期
- 状态
- 已完成
- 入组人数
- 10
- 试验地点
- 1
- 主要终点
- 1-Changes from baseline blood tests at 24 weeks 2-Changes from baseline neurophysiological tests at 24 weeks 3-Report of severe adverse events
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. Studies performed in skin cells (fibroblasts) from SPG11 patients, mice and zebrafish models of the disease showed that the material accumulated in the lysosomes is made of glycosphingolipids (GSL).
Miglustat is a drug that inhibits an enzyme called glucosylceramide synthetase (GCS) which is used for the production of GSL. Miglustat, therefore, helps to delay the production of GSL. This study aims to collect preliminary data on the safety of miglustat on the SPG11 disease and to assess biomarkers.
详细描述
We will analyze the safety of Miglustat
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Basic Science
- 盲法
- None
入排标准
- 年龄范围
- 14 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Written signed informed consent;
- •Confirmed diagnosis of SPG11;
- •Age > 13 years;
- •SPRS score ≥ 10 or ≤35;
- •Use of effective contraceptive methods and the performance of pregnancy tests (only fertile subjects).
排除标准
- •Diagnosis of other concomitant neurodegenerative diseases;
- •Outcomes of severe pre- or peri-natal suffering;
- •Age ≤ 13 years;
- •SPRS score ≥ 35 or ≤10;
- •Hypersensitivity or intolerance to miglustat;
- •Participation in other pharmacological studies within 30 days of the first Study visit (T0);
- •The inability to take the drug;
- •Any additional medical conditions;
- •Subjects with severe renal impairment;
- •Refusal to use effective contraceptive methods and the performance of pregnancy tests (only fertile subjects).
研究组 & 干预措施
Evaluate the safety of Miglustat administration in subjects with Spastic Paraplegia 11
100 mg of Miglustat, 3 caps per day for first 4 weeks; 100 mg of Miglustat, 6 caps per day for 8 weeks
干预措施: Miglustat 100 MG (Drug)
结局指标
主要结局
1-Changes from baseline blood tests at 24 weeks 2-Changes from baseline neurophysiological tests at 24 weeks 3-Report of severe adverse events
时间窗: At baseline, 24 weeks
routine blood test
次要结局
- Changes from baseline GM2/GM3 levels at 24 weeks(At baseline, 24 weeks)
- Assess changes in the scores of the Spastic Paraplegia Rating Scale (SPRS) at 24 weeks(At baseline, 24 weeks)
研究者
Filippo Maria Santorelli
Director Molecular Medicine, Neurogenetics and Neuromuscular Disorders
IRCCS Fondazione Stella Maris