Effect of Iron-Chelating Therapy in Friedreich Ataxia. Study Phase I/II
试验速览
- 阶段
- 1 期
- 状态
- 已完成
- 入组人数
- 15
- 试验地点
- 1
- 主要终点
- assessment of iron overload at TO and month2 by imagery
研究概览
简要总结
Friedreich ataxia, an autosomal recessive condition, ascribed to frataxin gene expansion, has been shown to result from an iron- induced injury to the mitochondrial respiratory chain. Buffering free radicals with short-chain quinones (Idebenone) protects the patients against cardiomyopathy but not CNS involvement. Removing CNS iron should limit the impact of the neurological symptoms of the disease.
详细描述
The current clinical trial is a monocentric open phase1-2 trial in the context of rare diseases framework, aimed to the goal of defining the tolerance/efficacy of the treatment.
Inclusion criteria: minimum age: 13 years Follow up in the Dept of Genetics, Hospital Necker-Enfants Malades, Paris, France
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Single Group
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 年龄范围
- 13 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Minimum age: 13 years
- •Molecular confirmation of frataxin gene mutation
- •Iron overload evaluation
- •Presence of lactate
- •Echography response to Idebenone treatment
- •Urinary test of pregnancy for girls
- •Sexual abstinence for men
- •Information consent
排除标准
- •No disturbance of iron metabolism
- •No response to Idebenone
- •Friedreich not confirmed
- •Polynuclear neutrophils <2 x 109/L or hemoglobin < 8g/dL
- •No participation to other trial
- •Doubt regarding the compliance of the patient to protocol
- •Impossibility to undergo X-ray examination or presence of iron material in the backbone
- •Pregnant women
- •Absence of social insurance.
研究组 & 干预措施
1
Iron chelating intervention
干预措施: Iron chelating intervention (Drug)
结局指标
主要结局
assessment of iron overload at TO and month2 by imagery
时间窗: at months :0, 1 ,2 ,4 ,6
次要结局
- Clinical (monthly) and biological parameter follow- up ( blood count,(weekly)
- plasma iron, ferritin, transferrin and liver enzymes)(every months)