Actively Recruiting
Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA)
Led by Weill Medical College of Cornell University · Updated on 2025-08-19
100
Participants Needed
1
Research Sites
602 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Friedreich's ataxia (FRDA) is an autosomal recessive disease characterized by loss of coordination and cardiomyopathy. It is the most common form of inherited ataxia with an incidence in 1/50,000 in the Caucasian population. FRDA is associated with progressive damage to the nervous system, resulting in symptoms ranging from gait disturbance to speech problems, as well as diabetes and heart disease. The heart disease manifests as cardiomyopathy, and is responsible for approximately 60% of deaths from FRDA. This study is designed to characterize the cardiac manifestations of the disease using exercise, MRI, ECHO and serum parameters, in the context of the neurological disease. In addition, this study will demonstrate that corneal confocal microscopy (CCM) may also provide a biomarker for FRDA.
CONDITIONS
Official Title
Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Male or female aged 12 to 50 years
- Willing and able to give informed consent (adolescents need assent and parent consent)
- Definitive diagnosis of Friedreich's Ataxia by clinical and genetic testing
- Left ventricle ejection fraction greater than 35% measured by echocardiogram
- Matched age, gender, and ethnicity for normal controls aged 12 to 30 years
- Capable of undergoing cardiac assessments required by the study
You will not qualify if you...
- Signs or symptoms of heart failure
- Moderate to severe atrial or ventricular arrhythmias
- History of angina pectoris
- Implanted pacemaker, defibrillator, or any device preventing MRI
- Receiving dialysis or severe kidney disease (CKD stage 4 or 5) without dialysis
- Acute kidney injury
- Females who are pregnant or lactating
- Use of investigational drugs within 30 days or active participation in investigational studies
- Unable to undergo cardiac MRI with gadolinium contrast or claustrophobia
- Unable to sit with back support or perform exercise tests (for controls)
- Clinical history or evidence of Type 1 or Type 2 diabetes mellitus
- Any condition or abnormal test results that interfere with study participation or increase risk
AI-Screening
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Trial Site Locations
Total: 1 location
1
Weill Cornell Medicine
New York, New York, United States, 10021
Actively Recruiting
Research Team
N
Niamh Savage, BS
CONTACT
M
Madeline Galbraith, BS
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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