A Phase II Randomized, Multicenter, Double-Blind, Placebo-Controlled Study Evaluating Effect Of GlcNAc On Tear Production In Individuals With NGLY1-CDDG
试验速览
- 阶段
- 2 期
- 状态
- 进行中（未招募）
- 发起方
- 入组人数
- 18
- 试验地点
- 2
- 主要终点
- Difference in tear production from baseline in placebo vs GlcNAc group
研究概览
简要总结
In patients with NGLY1-CDDG, the disorder can lead to eye damage due to not being able to produce enough tears. This study is being done to see if the dietary supplement, GlcNAc, improves tear production in patients with NGLY1-CDDG.
详细描述
This study is a multicenter randomized, double-blind, placebo-controlled trial of GlcNAc supplementation for improvement of tear production in NGLY1-CDDG. Clinical history and screening data will be reviewed to determine subject eligibility. If a subject is already on GlcNAc, a washout period of 1 month will be required prior to consent and randomization. Interested subjects who have a molecularly confirmed diagnosis of NGLY1-CDDG will be consented. Baseline data will be collected prior to randomization at treatment initiation. Subjects will then be randomized to placebo or GlcNAc. They will be administered weight-dependent doses of GlcNAc or an equivalent volume of placebo enterally for 6 weeks, followed by open label weight-dependent doses of GlcNAc for 6 weeks. A visit for evaluation and collection of lab samples will be conducted at 6 and 12 weeks.
研究设计
- 研究类型
- Interventional
- 分配方式
- Randomized
- 干预模型
- Parallel
- 主要目的
- Treatment
- 盲法
- Triple (Participant, Care Provider, Investigator)
入排标准
- 年龄范围
- 1 Year 至 60 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Previously molecularly confirmed NGLY1-CDDG
- •Parent or legal guardian available to provide consent on behalf of minor subjects or adult subjects who are unable to give informed consent due to developmental disabilities. Willingness of subject or legal guardian to provide consent.
- •Exclusion Criteria
- •Hypersensitivity to any of the components of the placebo
- •History of treatment with GlcNAc within 28 days of Visit 1
- •Participation in another therapeutic trial - the subject will not be permitted to participate in any other drug trial during the blinded phase and during the 28 days prior to Visit 1
- •Shellfish allergy
- •Planned eye surgery within 3 months of enrollment
- •• Females that are pregnant, nursing or less than 6 months postpartum or attempting to conceive
排除标准
- 未提供
研究组 & 干预措施
GlcNAc
GlcNAc powder
干预措施: GlcNAc-GlcN (Drug)
Placebo
Placebo xylose
干预措施: Placebo (Other)
结局指标
主要结局
Difference in tear production from baseline in placebo vs GlcNAc group
时间窗: 6 weeks
The primary endpoint of the study is the difference in tear production from baseline in individuals with NGLY1-CDDG between the placebo and the GlcNAc group after 6 weeks of blinded therapy, as measured by Schirmer II test which is a tool that helps assess the amount of tears in the eyes.
次要结局
- Frequency of eye redness needing treatments(6 weeks, 12 weeks)
- Frequency of light sensitivity(6 weeks, 12 weeks)
- Difference in tear production from baseline(12 weeks)
- Frequency of eye infections needing treatments(6 weeks, 12 weeks)
- Frequency of eye tearing/watering(6 weeks, 12 weeks)
- Frequency of wind sensitivity(6 weeks, 12 weeks)
研究者
Eva Morava-Kozicz
Principal Investigator
Icahn School of Medicine at Mount Sinai