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
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Friedreich's ataxia (FRDA) is an inherited condition that causes loss of coordination and heart muscle disease called cardiomyopathy. It is the most common inherited ataxia and affects the nervous system, leading to problems with walking, speech, diabetes, and heart disease. This research aims to understand how FRDA affects the heart by using tests like exercise, MRI, echocardiography, and blood tests, and also to explore if corneal confocal microscopy can serve as a biomarker for the disease. Participants diagnosed with FRDA and healthy volunteers will undergo several tests including cardiac magnetic resonance imaging (CMR), exercise-stress tests using a hand crank, echocardiograms (ECHO), and blood draws to measure heart-related substances like troponin, BNP, and CPK. CMR uses magnets and contrast dye to create detailed images of the heart, while ECHO uses ultrasound. These procedures will help compare cardiac function in people with FRDA and those without the condition. During the study, participants will have blood drawn (up to 57 mL per visit), undergo heart imaging and exercise tests lasting about two hours each, and have their heart function monitored. Researchers will measure levels of heart-related biomarkers and assess heart function through imaging and exercise capacity. The study involves individuals aged 12 to 50 and includes healthy controls for comparison. The research will help identify which tests best detect heart problems in FRDA and may improve understanding of disease progression.
CONDITIONS
Brief Title
Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Males and females aged 12 to 50 years
- Willing and able to provide informed consent (adolescents must provide assent and parent consent)
- Definitive diagnosis of Friedreich's Ataxia based on clinical and genetic testing
- Left ventricle ejection fraction measured by echocardiogram greater than 35% (if unknown, testing will be done)
- Healthy controls aged 12 to 30 years matched by age, gender, and ethnicity to the FRDA group
- Healthy controls must be capable of undergoing cardiac assessments and have left ventricle ejection fraction greater than 35%
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 other devices preventing MRI assessment
- Any form of dialysis or severe kidney disease (eGFR below 30 ml/min/1.73 m2) without dialysis
- Acute kidney injury
- Females who are pregnant or lactating
- Participation in an investigational drug or device study within 30 days or 5 half-lives prior to screening
- Unable to undergo cardiac MRI with gadolinium contrast or have claustrophobia
- Clinical history or evidence of Type 1 or Type 2 diabetes mellitus
- Any condition that would interfere with study compliance or pose unacceptable risk
- For healthy controls, inability to sit with back support or undergo exercise tests
- Healthy controls not deemed in good overall health by the investigator
AI-Screening
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Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Single visit lasting approximately 4 to 5 hours
Participants undergo cardiac assessments including cardiac magnetic resonance imaging (CMR) with contrast, exercise-stress test involving arm pedaling, echocardiogram (ECHO) ultrasound, and blood draws to measure cardiac biomarkers such as troponin, BNP, and CPK.
1 visit (in-person)
Duration - Up to study completion in August 2026
Participants are observed to assess cardiac function and neurologic disease progression using the collected data from the cardiac assessments and blood studies.
Follow-up visits as needed based on study protocol
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
M
Madeline Galbraith, BS
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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