Randomized, Double-blind, Controlled Study of Clomastine Fumarate in the Treatment of Williams Syndrome
试验速览
- 阶段
- 3 期
- 状态
- 招募中
- 入组人数
- 50
- 试验地点
- 1
- 主要终点
- Radial diffusion rate (RD)
研究概览
简要总结
This study focuses on therapeutic targets for cognitive, motor, and social impairments in Williams syndrome by reversing brain myelin defects caused by GTF2I. The primary objective of the study was to test and evaluate the initial efficacy and safety of Clomastine fumarate in the treatment of Williams syndrome.
详细描述
The primary objective of this study was to evaluate the initial efficacy and safety of Clomastine fumarate in the treatment of Williams syndrome. The secondary objective is to study Clomastine fumarate in relation to mechanisms of action, safety, and/or pathological mechanisms. This study was an open-label study with a randomized, cross-over, placebo-controlled design. Each participant will be randomly assigned to two groups through baseline assessment (see study results), with Group A receiving the FDA-approved drug Clemastine at a weight-dependent dose (see dosing table below) for the first cycle and placebo for the second cycle. Group B will be treated with placebo for the first cycle and the FDA-approved drug Clemastine for the second cycle.
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
- Triple (Participant, Care Provider, Investigator)
入排标准
- 年龄范围
- 3 Years 至 6 Years（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Age 3-6 years old;
- •Positive fluorescence in situ hybridization (FISH) test confirmed Williams syndrome;
- •GTF2I gene mutation was detected by whole exon;
- •Heart safety variables are normal (e.g. normal ECG, blood pressure 120-129/80-84)
排除标准
- •WS patients with other gene mutations;
- •Used antihistamines, monoamine oxidase inhibitors, barbiturates and sedatives, as well as drugs affecting cognitive behavior, limb movement, white matter myelin, and MRI within 2 months before enrollment;
- •Patients with narrow-angle glaucoma, narrow peptic ulcer, pyloroduodenal obstruction, symptomatic prostatic hypertrophy and bladder neck obstruction; Accompanied by severe immunodeficiency disease;
- •Allergic to Clomastine fumarate or other arylalkylamine antihistamines or any receptor;
- •According to the recent interpretation of MRI and neuroradiology experts or WS, there are obvious brain lesions that are not related to WS disease;
- •Clinically significant metabolic, hematological, liver, immune, urinary, endocrine, neurological, pulmonary, psychiatric, skin, allergic, renal, or other major diseases that may affect the interpretation of study findings or patient safety in WS's judgment;
研究组 & 干预措施
fructose
干预措施: fructose (Dietary Supplement)
Clemastine
Clemastine，tablet，0.15mg/kg/d，two months
干预措施: Clemastine Fumarate Tablets (Drug)
结局指标
主要结局
Radial diffusion rate (RD)
时间窗: baseline follow-up；second month；fourth month
Measuring by Magnetic resonance diffusion tensor imaging (DTI)
Anisotropy Score (FA)
时间窗: baseline follow-up；second month；fourth month
Measuring by Magnetic resonance diffusion tensor imaging (DTI)
Apparent dispersion coefficient（ADC）
时间窗: baseline follow-up；second month；fourth month
Measuring by Magnetic resonance diffusion tensor imaging (DTI)
SRS Score 2(Social Response Scale2) score
时间窗: baseline follow-up；second month；fourth month
Assessing social skills
Peabody（Motion Estimation Timewarp）score
时间窗: baseline follow-up；second month；fourth month
Assessing motion skills
Magnetization transfer ratio（MTR）
时间窗: baseline follow-up；second month；fourth month
Measuring by Magnetic resonance diffusion tensor imaging (DTI)
Gesell Development Scale
时间窗: baseline follow-up；second month；fourth month
Assessing neurodevelopment
次要结局
- CSHQ Children's Sleep Habits Questionnaire Score(baseline follow-up；second month；fourth month)
- Differential pressure across valves(baseline follow-up；second month；fourth month)
- Thyroid hormone value(baseline follow-up；second month；fourth month)
- Conners Parent Symptoms Questionnaire Score(baseline follow-up；second month；fourth month)
- Vailand-3 scale(baseline follow-up；second month；fourth month)