Biomarkers in Friedreich's Ataxia
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 203
- 试验地点
- 1
- 主要终点
- Cardiac MRI
研究概览
简要总结
The purpose of this project is to characterize measures of cardiac performance and neuromuscular physiology in FA patients using novel techniques, including echocardiography and magnetic resonance imaging (MRI), metabolic exercise testing, and neurophysiological outcomes.
详细描述
Friedreich's ataxia (FA) is an autosomal recessive disease caused by a mutation in the frataxin gene (FXN). Although rare, FA is the most common form of hereditary ataxia, affecting 1 in every 50,000 people in the United States. Currently, palliative therapies are the only treatment for FA patients. However, current gene therapy efforts in other neuromuscular diseases have positioned the investigator's research program to extend these discoveries and techniques to FA. As new therapies become available for clinical application, it is crucial to identify non-invasive outcomes measures of cardiac and neuromuscular performance with adequate sensitivity to detect the impact of treatments.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 6 Years 至 70 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Genetic diagnosis of Friedreich's ataxia by DNA sequencing, mutational analysis or protein assay OR be a healthy subject with no evidence of a neuromuscular disorder
- •Between the ages of 6 and 70 (inclusive)
- •Are able to tolerate metabolic exercise testing
- •Are stable on cardiac medication regimen for 3 months prior to screening
排除标准
- •Presence of unstable heart disease
- •Receipt of cardiac transplant
- •Any concurrent medical condition which, in the opinion of the investigators, would make the subject unsuitable for the study
结局指标
主要结局
Cardiac MRI
时间窗: Baseline and Follow-Up Visits
Cardiac MRI will be used to characterize cardiac morphology and function.
Echocardiogram
时间窗: Baseline and Follow-Up Visits
Echocardiogram will be used to characterize cardiac morphology and function.
Friedreich's Ataxia Rating Scale (FARS)
时间窗: Baseline and Follow-Up Visits
FARS scores describe specific neurological impairments in FA.
Skin Biopsy
时间窗: Baseline
Analyses to peripheral tissue used to find out how Friedreich's Ataxia develops.
Pulmonary Function Testing
时间窗: Baseline and Follow-Up Visits
Breathing tests to assess lung strength and function.
Metabolic exercise testing
时间窗: Baseline and Follow-Up Visits
Metabolic exercise testing will be performed on either a recumbent bike or hand ergometer and will measure the maximal amount of exercise the subject is able to perform.
Scale for the Assessment and Rating of Ataxia (SARA)
时间窗: Baseline and Follow-Up Visits
Clinical scale assessing impairment levels in cerebellar ataxia
Muscle Biopsy
时间窗: Baseline
The muscle sample will be used to evaluate Frataxin quantification
9-Hole-Peg Test
时间窗: Baseline and Follow-Up Visits
Assesses upper extremity function and motor coordination.
次要结局
未报告次要终点