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Characterizing Heart Problems in Friedreich's Ataxia

This study aims to better understand how Friedreich's Ataxia (FRDA) affects the heart. Researchers will use several methods to look at heart health, including cardiac magnetic resonance imaging (CMR), which uses magnets and radio waves to create detailed heart pictures; an exercise-stress test on a bicycle; an echocardiogram (ECHO), which is an ultrasound of the heart; and blood tests to measure heart-related markers like troponin, BNP, and CPK. The study is looking for 100 participants between 12 and 50 years old who have a confirmed diagnosis of FRDA and a specific heart function (left ventricle ejection fraction) above 35%. The goal is to identify the best ways to assess heart problems in people with FRDA. The current status of this study is unclear.

Study design
This is an observational study, meaning researchers will observe participants without providing a specific treatment. It plans to enroll 100 participants.
What's involved
You would undergo a cardiac magnetic resonance imaging (CMR) scan, an exercise-stress test, an echocardiogram (ECHO), and have blood drawn for cardiac-related studies.
Compensation
Not stated in the trial record.
Follow-up
Blood levels of troponin, BNP, and CPK will be measured at 30 minutes. The echocardiogram and exercise-stress test will be measured at 2 hours.

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NCT02316314

Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA)

Recruiting
Not specifiedAges 12–50Observational
Weill Medical College of Cornell University
~100 participants
Updated 2026-07-29 on ClinicalTrials.gov
What's tested:Cardiac magnetic resonance imaging (CMR)Exercise-stress testEchocardiogram (ECHO)Cardiac-related blood studies

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Level of troponin, BNP, and CPK in blood
Measured over 30 minutes
+2 more outcomes measured

Conditions

Friedreich's Ataxia

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Where you'd take part

This study runs at 1 site. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.

  • Weill Cornell Medicine

    New York, New Yorkstudy coordinator listed

    Recruiting

Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.

Study leadership

  • Ronald G Crystal, MD · PRINCIPAL_INVESTIGATOR · Weill Medical College of Cornell University

Who to contact

Niamh Savage, BS
[email protected]
646-962-5527
Email the study team

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Eligibility criteria

Inclusion

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)
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)

Exclusion

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
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

What this trial measures

  • Level of troponin, BNP, and CPK in blood30 minutes

    Average the levels of troponin for each subject

  • echocardiogram2 hour

    Evaluate the results of subject's Echo cardiograms

  • exercise-stress test2 hour

    Evaluate off the results of the exercise-stress test