Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10
试验速览
- 阶段
- 3 期
- 状态
- 已完成
- 入组人数
- 19
- 试验地点
- 2
- 主要终点
- Albuminemia
研究概览
简要总结
We propose a study on Ataxia with oculomotor apraxia type 1 (AOA1) in which Coenzyme Q10 (CoQ10) deficit has been observed. Main objectives of the study are :
- To monitor evolution of albumin in patients affected with AOA1 while supplemented with CoQ10 ;
- To measure with clinical scales and biological markers efficacy of supplementation on disease evolution.
AOA1 is characterised by Hypoalbuminemia. Disease duration is negatively correlated with albumin level. This study aims to understand mechanisms of the disease and our hypothesis is that correction or stabilization of albumin level with CoQ10 supplementation could impact disease evolution. The study is planned from 1 to 2 years supplementation. The CoQ10 is classified as a food supplement and has already been tested in other neurological conditions.
详细描述
Ataxia with ocular apraxia type 1 (AOA1) is an autosomal recessive cerebellar ataxia. Patients' phenotype associates early onset cerebellar ataxia, oculomotor apraxia, neuropathy and often intellectual disability, hypoalbuminaemia and hypercholesterolemia.
APTX gene mutations responsible for AOA1 disease were identified in a family previously reported with ataxia and Coenzyme Q10 deficiency. Therefore we measured muscle Coenzyme Q10 in six patients AOA1 and found decreased levels in five. Hypercholesterolaemia and low albumin levels represent hallmarks of the disease.
We thus propose therapeutic trial with Coenzyme Q10 in AOA1 patients, by using albumin evolution as primary endpoint.
Moreover several secondary endpoints will be performed:
- clinical examination (SARA scale)
- quantitative assessments of the ataxia (with the calculation of the Composite Cerebellar Functional Severity CCFS)
- biological criteria (prealbumin, cholesterol, alphafoetoprotein, blood count, hepatic checkup)
- oculographic examination.
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
- Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
盲法说明
placebo
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- 未提供
排除标准
- 未提供
结局指标
主要结局
Albuminemia
时间窗: 2 years
Evolution of albuminemia every 6 months during 2 years.
次要结局
- cholesterol(2 years.)
- SARA scale(2 years)
- prealbuminemia(2 years)
- alfa-foeto-protein(2 years.)
- Oculomotor evaluation(2 years)
- EQ5D - PHQ9(2 years)
- CCFS(2 years)