ClinicalTrials.gov record NCT02316314
Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA)
Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA)
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
This observational, case-control study compares heart structure and function in people with Friedreich's Ataxia and matched healthy controls. Participants will have exercise testing, cardiac MRI with contrast, an echocardiogram, blood tests, and corneal confocal microscopy. The study looks for which measurements best describe heart involvement and relate to the neurological disease.
What it is studying. Whether and how several noninvasive tests — hand-crank exercise stress, cardiac magnetic resonance imaging (CMR) with contrast, echocardiogram, blood biomarkers (troponin, NT-proBNP, CPK), and corneal confocal microscopy (CCM) — show cardiac involvement in Friedreich's Ataxia and relate to neurological disease.
What the researchers hope to learn. Characterize the cardiac manifestations of Friedreich's Ataxia; correlate exercise capacity, CMR, echocardiography, and blood biomarkers; and evaluate corneal confocal microscopy as a possible noninvasive biomarker for the neurologic disease.
What this study is about
The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.
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 being studied
Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.
- Procedure
- Cardiac magnetic resonance imaging (CMR)
- Exercise-stress test
- Echocardiogram (ECHO)
- Cardiac-related blood studies
Eligibility
The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.
Inclusion criteria
- Friedreich's Ataxia - 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
Study description and what participation involves
The study's detailed description, as published on ClinicalTrials.gov.
Detailed description from the registry
The focus of this study is to assess cardiac dysfunction in individuals with FRDA using 4 modalities: hand crank exercise, cardiac magnetic resonance (CMR) imaging, echocardiography (ECHO), and serum measurements of cardiac status, including high sensitivity troponin, a measure of cardiac myocyte damage; N-terminal prohormone of brain natriuretic peptide (NTproBNP), a measure of heart failure; and creatine phosphokinase (CPK), a general measure of muscle damage. While there have been individual studies of some of these modalities, there are no studies that correlate these parameters and it is not known which parameters are more sensitive to cardiac dysfunction. This preliminary study will help define the parameters most useful in assessing the cardiac involvement in FRDA. In addition, the study will investigate noninvasive tests and procedures that may serve as biomarkers for the neurologic disease. In other neurological diseases, non-invasive examination of the number and structure of nerve cells in the cornea has been assessed as an indication of disease progression.
AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
Participants will have a resting echocardiogram, a cardiac MRI with gadolinium contrast (contrast injected into a vein), an arm-crank exercise-stress test, and blood draws for cardiac markers (up to 57 mL per visit). If a recent kidney test is not available, a blood test to check kidney function will be done before the MRI. People with LVEF below the threshold may be excused from the exercise test. Both people with FRDA and matched healthy controls undergo the same assessments.
How the study is structured. Observational, cross-sectional case-control design. People with Friedreich's Ataxia and matched healthy controls undergo the same set of tests (exercise-stress, CMR, ECHO, blood draws, and corneal confocal microscopy) and results are compared between groups at a single time point.
Questions you could ask
These questions are suggestions for a conversation with the study team or your own clinician, not advice.
- This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
- The listed sites are in United States. Is any of them reachable for me, and does the study help with travel?
- Which of the eligibility criteria would need to be checked with tests before I could join?
More on Friedreich ataxia
Important dates
- Study start
- Jan 15, 2015
- Primary completion
- August 2027 (estimated)
- Study completion
- August 2027 (estimated)
- Target enrollment
- 100 participants (estimated)
- Last updated on registry
- Jul 29, 2026
- Data verified
- Oct 10, 2026
Sponsor and research team
The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.
- Lead sponsor
- Weill Medical College of Cornell University
Central study contact
If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.
- Niamh Savage, BS 📞 646-962-5527 ✉ nis2049@med.cornell.edu
- Madeline Galbraith, BS 📞 646-962-2672
Participating sites (1)
- Weill Cornell MedicineRecruiting
New York, New York, 10021 · United States
- Niamh Savage, BS · 646-962-2672 · nis2049@med.cornell.edu
- Madeline Galbraith, BS · 646-962-2672 · meg4013@med.cornell.edu
Terms used on this page · explanations by MedicalUpdates.ai
- MRI
- A scan that uses magnets and radio waves, not X-rays, to make detailed pictures of the inside of the body. Some implants and metal objects mean a person cannot have one.
- ECHO
- An ultrasound scan of the heart. A transesophageal echocardiogram is done through a probe passed into the food pipe for a closer view.
- biomarker
- Something measurable in the body, such as a blood test result or an imaging finding, that indicates how a condition or treatment is behaving.
- Inclusion Criteria
- The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
- informed consent
- The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
- assent
- A child's or dependent adult's agreement to take part, given alongside the formal consent of a parent or legal representative.
- eGFR
- A blood-test estimate of how well the kidneys are filtering. Lower numbers mean reduced kidney function; many studies set a minimum value.
- investigational drug
- A treatment that is being tested and has not been approved for this use. It may be approved for a different condition. Being studied does not mean it works or is available outside the study.
- 5 half-lives
- The time it takes for the amount of a drug in the body to fall by half. 'Five half-lives' is often used as the point at which a previous drug has essentially left the body.
- prior to screening
- The checks done before enrolment to see whether a person qualifies, such as tests, scans or a review of medical history.
- enrollment
- The number of participants a study plans to include, or has included. 'Estimated' means the planned number; 'actual' means the number who joined.
- Exclusion Criteria
- The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.
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