Evaluation of Efficacy and Safety of D-galactose Supplementation in SLC35A2-CDG, a Disorder of Hypogalactosylation
试验速览
- 阶段
- 2 期
- 状态
- 尚未招募
- 发起方
- 入组人数
- 10
- 试验地点
- 2
- 主要终点
- Number of major motor seizure frequency
研究概览
简要总结
This is a multicenter, randomized, double-blind, placebo-controlled, cross-over study to evaluate the efficacy and safety of AVTX-801 in subjects with SLC35A2-CDG
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
- 1 Month 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Molecular confirmation of SLC35A2 genetic variant
- •Age > 1 month
- •Presence of seizures, chronic vomiting, chronic constipation, or chronic diarrhea
- •A parent or legal guardian must be available and willing to provide consent on behalf of minor subjects or adult subjects who are unable to give informed consent due to developmental disabilities.
- •Use of contraception in females > age 8 years
- •Previously performed eye exam within last year
排除标准
- •Aldolase-B deficiency
- •Galactosemia
- •Hemolytic uremic syndrome
- •Hemoglobin < 7 mg/dL
- •LFTs > 3x ULN
- •Previously experienced severe AEs from oral galactose (severe diarrhea, vomiting, constipation, galactosuria, or increased liver glycogen storage)
- •Other history of galactose intolerance as determined by the investigator
- •Currently treated with ketogenic diet
- •Current enrollment in another trial involving investigational compounds
- •Ongoing dietary D-galactose supplementation
- •Use of investigational compounds
- •Pregnancy
研究组 & 干预措施
AVTX-801, then Placebo
Each treatment period is 24 weeks, with 6-week washout period in between.
干预措施: Placebo (Drug)
Placebo, then AVTX-801
Each treatment period is 24 weeks, with 6-week washout period in between.
干预措施: AVTX-801 (Drug)
AVTX-801, then Placebo
Each treatment period is 24 weeks, with 6-week washout period in between.
干预措施: AVTX-801 (Drug)
Placebo, then AVTX-801
Each treatment period is 24 weeks, with 6-week washout period in between.
干预措施: Placebo (Drug)
结局指标
主要结局
Number of major motor seizure frequency
时间窗: 28 days
Seizure burden assessed by change from baseline in 28-day major motor seizure frequency
Number of vomiting episodes
时间窗: 28 days
Vomiting frequency in 28-day from baseline
Bristol Stool Form Scale (BSFS)
时间窗: average daily 28 days
Constipation/diarrhea assessed by scale improvement toward normal stool forms from baseline in average daily 28-day Bristol Stool form scale. The BSFS classifies stool into 7 groups, type 1 (hardest) to type 7 (softest). Type 3 and Type 4 would be more indicative of normal stool.
次要结局
未报告次要终点
研究者
Eva Morava-Kozicz
Principal Investigator
Icahn School of Medicine at Mount Sinai