A Study to Characterize the Cardiac Phenotype of Individuals With Friedreich's Ataxia (CARFA Study)
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 40
- 试验地点
- 1
- 主要终点
- Echocardiogram
研究概览
简要总结
Friedreich's ataxia (FA) is an autosomal recessive disease with an incidence of 1/50,000 in the Caucasian population. The main manifestations of FA are progressive sensory and cerebellar ataxia and cardiomyopathy (CM). It is the most common form of inherited ataxia. A severe CM affects ~60% of FA patients, mostly young adults, and leads to cardiac failure then death. Currently, no therapy can change the course of this severe cardiomyopathy.
This study is designed to characterize the cardiac manifestations of FA using cardiac magnetic resonance (CMR), echocardiography, serum cardiac biomarkers and evaluation of fatigue severity, in the context of the neurological disease.
研究设计
- 研究类型
- Interventional
- 干预模型
- Factorial
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •(Friedreich's Ataxia):
- •Males and females;
- •≥ 18 years old;
- •Willing and able to provide informed consent;
- •Definitive diagnosis of FA, based on clinical phenotype and genotype;
- •With a hypertrophic cardiomyopathy;
- •Ability to complete study assessments.
排除标准
- •(Friedreich's Ataxia):
- •Symptoms of cardiac failure;
- •Moderate to severe atrial or ventricular arrhythmias;
- •History of angina pectoris;
- •Inability to undergo cardiac MRI;
- •Clinical history or evidence of diabetes;
- •Abnormal kidney function;
- •Females who are pregnant or nursing;
- •Receipt of an investigational drug within 30 days or 5 half-lives, or active enrollment in an investigational medication or device study;
- •Inability to sit with back support;
- •Inability to undergo exercise test;
- •Inability to comply with all study requirements;
- •Unaffiliated to any French health insurance or equivalent.
- •Inclusion Criteria (Healthy Volunteers):
- •Healthy males and females;
- •≥ 18 years old;
- •Willing and able to provide informed consent;
- •Age and gender matched to the Friedreich's Ataxia group;
- •Ability to complete study assessments.
- •Exclusion Criteria (Healthy Volunteers):
- •Inability to undergo cardiac MRI;
- •Clinical history or evidence of diabetes;
- •Abnormal kidney function;
- •Females who are pregnant or nursing;
- •Receipt of an investigational drug within 30 days or 5 half-lives, or active enrollment in an investigational medication or device study;
- •Inability to undergo exercise test;
- •Inability to comply with all study requirements;
- •Unaffiliated to any French health insurance or equivalent.
研究组 & 干预措施
Healthy Volunteers (Controls)
干预措施: Cardiac magnetic resonance imaging (CMR) (Procedure)
Friedreich's Ataxia
干预措施: Exercise-stress test (Procedure)
Friedreich's Ataxia
干预措施: Echocardiography (ECHO) (Procedure)
Friedreich's Ataxia
干预措施: Cardiac-related blood studies (Procedure)
Friedreich's Ataxia
干预措施: Cardiac magnetic resonance imaging (CMR) (Procedure)
Healthy Volunteers (Controls)
干预措施: Exercise-stress test (Procedure)
Healthy Volunteers (Controls)
干预措施: Echocardiography (ECHO) (Procedure)
Healthy Volunteers (Controls)
干预措施: Cardiac-related blood studies (Procedure)
结局指标
主要结局
Echocardiogram
时间窗: 2 hours
Level of cardiac biomarkers in serum
时间窗: 30 minutes
Fatigue Severity Scale
时间窗: 30 minutes
Exercise-stress test
时间窗: 2 hours
Cardiac magnetic resonance imaging (CMR)
时间窗: 2 hours
次要结局
未报告次要终点