NAD Supplementation to Prevent Progressive Neurological Disease in Ataxia Telangiectasia
试验速览
- 阶段
- 2 期
- 状态
- 进行中（未招募）
- 发起方
- 入组人数
- 13
- 试验地点
- 2
- 主要终点
- NAD metabolome
研究概览
简要总结
The study investigates the effect of dietary supplementation of nicotinamide ribonucleoside (NR) in children with ataxia telangiectasia (AT), with main focus on neurological symptoms.
详细描述
Ataxia Telangiectasia (AT) is a genetic disease, where patients are born with mutations in the Ataxia- Telangiectasia Mutated (ATM) gene. The gene codes for the ATM kinase, which is required for repair of DNA double-stranded breaks and DNA damage response signalling.
There is no treatment available for the neurological manifestations of AT.
The study investigates the effects of NR (300 mg/day) during 2 years.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 年龄范围
- 3 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •clinically and molecular verified classical A-T disease
排除标准
- •less than 2 years of age
- •participation in other on-going study
- •pregnancy
- •liver failure
- •other severe medical conditions considered to set patient at risk
研究组 & 干预措施
NR treated
Nicotinamide ribonuceloside (NR), sold under the trade name Niagen™
干预措施: Nicotinamide ribonucleoside (Drug)
结局指标
主要结局
NAD metabolome
时间窗: 2 years
Increase of NAD+ and other stable NAD+ metabolites (referred to as the NAD metabolome) in blood
次要结局
- Patient well being(2 years)
- Motoric function - The Scale for the Assessment and Rating of Ataxia (SARA)(2 years)
- Motoric function - Customized gait scale (GS)(2 years)
- Motoric function - AT Neuro Examination Scale Toolkit, updated version (AT-NEST)(2 years)
- Motoric function - Clinical Global Scale rating instrument for A-T(2 years)
- Liver function(2 years)
- Blood sugar control(2 years)
- Mitochondrial function(2 years)
- Motoric function - The International Cooperative Ataxia Rating Scale (ICARS)(2 years)
研究者
Hilde Nilsen
Professor
University Hospital, Akershus