In Vivo Study of Safety, Tolerability and Dosing Effect on SMN mRNA and Protein Levels of Valproic Acid in Patients With Spinal Muscular Atrophy
试验速览
- 阶段
- 1 期
- 状态
- 已完成
- 入组人数
- 42
- 试验地点
- 2
- 主要终点
- To assess safety and tolerability of VPA in SMA patients greater than 2 years of age
研究概览
简要总结
This is an open label phase I/II clinical trial to assess safety, tolerability and potential effect on SMN mRNA and protein in vivo of a compound in which preliminary evidence supports a potential effect on SMN levels in vitro.
详细描述
This is an open label phase I/II trial of valproic acid in 40 SMA subjects > 2 years of age with severe, intermediate, and mild phenotypes. Primary outcome measures includes laboratory and physical examination assessments to monitor effects on liver, hematologic, metabolic and nutritional status. Secondary outcomes includes measures of gross motor function; electrophysiologic measures of denervation; DEXA estimates of body composition, bone mineral density and content; measures of pulmonary function; and quantitative SMN mRNA and protein levels in blood cells. Subjects will need 2-3 baseline visits over a 3 -6 month period prior to enrollment. Follow-up visits will be scheduled at 3, 6 and 12 months on treatment.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Single Group
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 年龄范围
- 2 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patients must have a diagnosis of SMA, confirmed by genetic testing
- •Only patients 2 years of age and older at enrollment will be eligible
排除标准
- •Patients taking any medications with known hepatotoxicity, congenital metabolic disorders or on multiple anticonvulsant medications
- •Patients taking medications which may interact with VPA
- •Patients on ventilatory support for more than 16 hours per day
- •Patients currently enrolled in other treatment trials
结局指标
主要结局
To assess safety and tolerability of VPA in SMA patients greater than 2 years of age
次要结局
- To look for a potential in vivo effect of VPA on SMN mRNA in patient blood cells at routinely used clinical doses
- Measures of gross motor function
- Electrophysiologic measures of denervation
- DEXA estimates of body composition, bone mineral density and content
- Measures of pulmonary function