NCT02316314 · Weill Medical College of Cornell University
Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA)
What this study 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.
View original scientific description
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.
Interventions
PROCEDURE
Cardiac magnetic resonance imaging (CMR)
CMR is a non-invasive way to take a high-resolution image of the heart and vessels. CMR uses powerful magnets and radio waves to obtain the image. During the CMR, you will have a substance injected into your vein called "contrast" to get a better picture of the heart.
PROCEDURE
Exercise-stress test
You will be asked to pedal on a bicycle with your arms to see how much work you can do and how far you can go.
PROCEDURE
Echocardiogram (ECHO)
An echocardiogram is an ultrasound of the heart done at rest.
PROCEDURE
Cardiac-related blood studies
The blood test involves drawing blood from a vein in the arm by placing a needle in it. The total amount of blood to be drawn for a single visit will be up to 57 mL (12 teaspoons).
Primary outcome measures
Level of troponin, BNP, and CPK in blood
Time frame: 30 minutes
Average the levels of troponin for each subject
echocardiogram
Time frame: 2 hour
Evaluate the results of subject's Echo cardiograms
exercise-stress test
Time frame: 2 hour
Evaluate off the results of the exercise-stress test
Who can participate
This study lists these criteria on ClinicalTrials.gov. A study coordinator reviews eligibility during screening — this page does not determine whether you qualify.
Inclusion criteria
- Males and females, age 12 to 50
- Willing and able to provide informed consent (adolescents will need to provide assent and a parent to provide consent)
- Definitive diagnosis of FRDA, based on clinical phenotype and genotype
- Left ventricle ejection fraction measured by ECHO of \>35% (If results of an ECHO are not available for a potential subject, then an ECHO will first be performed and subjects with an LVEF \<35% will not be required to perform the CPET) Friedreich's Ataxia -
Exclusion criteria
- Signs and symptoms of cardiac failure
- Moderate to severe atrial or ventricular arrythmias
- History of angina pectoris
- Implanted pacemaker and/ or defibrillator or any other device that would preclude MRI assessment
- Any form of dialysis; Severe or end-stage CKD (CKD 4 or 5, eGFR \< 30 ml/min/1.73 m2) without dialysis; eGFR 30 to 40 ml/min/1.73 m2 without dialysis; Acute kidney injury (If a recent assessment is not available, then a blood test to assess kidney function will be performed prior to cardiac MRI)
- Females who are pregnant
- Receipt of an investigational drug within 30 days or 5 half-lives, whichever is longer, prior to screening, or active enrollment in an investigational medication or device study
- Unable to undergo cardiac MRI with gadolinium contrast or claustrophobia
- Clinical history or evidence of Type 1 or Type 2 Diabetes mellitus
- Any condition, disorder, or abnormal laboratory test findings at screening which, in the judgment of the investigator, would interfere with the individual's ability to comply with all study requirements, or would require the administration of treatment during the study that could potentially affect the interpretation of the study data, or would place the individual at an unacceptable risk by his/ her participation in the study Normal controls - Inclusion Criteria:
- Males and females, age 12 to 30
- Willing and able to provide informed consent (Adolescents will need to provide assent and a parent to provide consent)
- Matched age, gender and ethnicity to the FRDA group
- Capable of undergoing the various modalities of cardiac assessment
- Left ventricle ejection fraction measured by ECHO of \>35% (If results of an ECHO are not available for a potential subject, then an ECHO will first be performed and subjects with an LVEF \<35% will be withdrawn from the study) Normal controls - Exclusion Criteria:
- Individuals not deemed in good overall health by the investigator will not be accepted into the study
- Signs and symptoms of cardiac failure
- Moderate to severe atrial or ventricular arrhythmias
- History of angina pectoris
- Implanted pacemaker and/ or defibrillator or any other device that would preclude MRI assessment
- Any form of dialysis; Severe or end-stage CKD (CKD 4 or 5, eGFR \< 30 ml/min/1.73 m2) without dialysis; eGFR 30 to 40 ml/min/1.73 m2 without dialysis; Acute kidney injury (If a recent assessment is not available, then a blood test to assess kidney function will be performed prior to cardiac MRI)
- Females who are pregnant or lactating
- Receipt of an investigational drug within 30 days or 5 half-lives, whichever is longer, prior to screening, or active enrollment in an investigational medication or device study
- Unable to sit with back support
- Unable to undergo cardiac MRI with gadolinium contrast or claustrophobia
- Unable to undergo exercise tests
- Clinical history or evidence of Type 1 or Type 2 Diabetes mellitus
- Any condition, disorder, or abnormal laboratory test findings at screening which, in the judgment of the investigator, would interfere with the individual's ability to comply with all study requirements, or would require the administration of treatment during the study that could potentially affect the interpretation of the study data, or would place the individual at an unacceptable risk by his/ her participation in the study
Where
- New York, New York
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Frequently asked questions
What is a clinical trial?
A clinical trial is a research study that tests new medical treatments, drugs, devices, or procedures to determine their safety and effectiveness. Trials are carefully designed and monitored to protect participants while advancing medical knowledge.
Is it safe to participate?
Clinical trials follow strict safety guidelines and ethical standards. Trials must be reviewed and approved, and participants are closely monitored by medical professionals throughout the study. You can withdraw at any time if you choose.
Will I be compensated?
Many clinical trials offer compensation for your time, travel expenses, and inconvenience. The specific compensation varies by study and will be discussed during the screening process. All study-related medical care is typically provided at no cost to participants.
Will I receive a placebo instead of treatment?
When effective treatment exists, participants typically receive either the standard treatment plus the study intervention, or the standard treatment plus placebo. You would not be denied effective care. Placebos are primarily used when no proven treatment is available, or in addition to standard care. Your trial consent form will clearly explain what treatments you may receive.
Can I leave a trial if I change my mind?
Absolutely. Participation in clinical trials is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty or loss of benefits to which you are otherwise entitled.
How long does a clinical trial last?
Trial duration varies widely depending on the study design and purpose. Some trials last just a few weeks, while others may continue for months or years. The study coordinator will provide specific timeline information during your screening call.
Data: ClinicalTrials.gov · synced Aug 19, 2025 · Source of record for eligibility and locations