Smith-Lemli Opitz Syndrome: A Clinical Investigation of the Effect of Simvastatin in Patients Receiving Cholesterol Supplementation
试验速览
- 阶段
- 不适用
- 状态
- 终止
- 入组人数
- 1
- 试验地点
- 1
- 主要终点
- Development Quotient (DQ)
研究概览
简要总结
The purpose of this study is to determine if simvastatin improves development and behavior in patients with Smith Lemli-Opitz syndrome (SLOS) receiving dietary cholesterol supplementation.
详细描述
Patients with SLOS receiving dietary cholesterol supplementation are given simvastatin, a drug that decreases the activity/expression of HMG-CoA reductase, an enzyme that controls the first step of the cholesterol synthesis pathway, reduces the accumulation of toxic 7-dehydrocholesterol (immediate metabolic precursor of cholesterol) and improve neurocognitive and behavioral outcomes.
研究设计
- 研究类型
- Interventional
- 分配方式
- Randomized
- 干预模型
- Crossover
- 主要目的
- Treatment
- 盲法
- Single (Participant)
入排标准
- 年龄范围
- 1 Year 至 89 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Male or female over 1 years old
- •Subject has confirmed diagnosis of Smith-Lemli-Opitz Syndrome
- •Subject is currently receiving cholesterol supplementation
排除标准
- •Subjects too ill to travel to the study site
- •Subjects who are unable to safely undergo study procedures
- •Pregnant women
研究组 & 干预措施
Placebo
placebo
干预措施: Lactose (Dietary Supplement)
Simvastatin
0.5 mg/kg body weight/day
干预措施: Simvastatin (Drug)
结局指标
主要结局
Development Quotient (DQ)
时间窗: through study completion, an average of 2 per year
neurocognitive assessment measured with Mullen Scales of Learning
次要结局
- ADC(end of treatment, an average of 1 per year)
- Whole Body Cholesterol Pool Size, Synthesis & Absorption Using Stable Isotope Testing(end of treatment, an average of 1 per year)
- Plasma Marker of Sterol Metabolism(through study completion, an average of 2 per year)
- MVA(through study completion, an average of 2 per year)
- MRS Lipids(end of treatment, an average of 1 per year)
- FA(end of treatment, an average of 1 per year)
研究者
Jean-Baptiste Roullet
Clinical Professor
Oregon Health and Science University