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

ConditionFriedreich's Ataxia
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age12-50
SponsorWeill Medical College of Cornell University

About this trial

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.

Eligibility criteria

This trial accepts healthy volunteers

Qualifiers

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)

Disqualifiers

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

Trial population

The study will be composed of individuals with FRDA and individuals without FRDA. Individuals without FRDA will be age, gender and ethnicity matched to the individuals with FRDA.

Trial design

Design model

Case-control

Time perspective

Cross-sectional

Treatments tested in this trial

  • Cardiac magnetic resonance imaging (CMR)

    Procedure/Surgery

    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.

  • Exercise-stress test

    Procedure/Surgery

    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.

  • Echocardiogram (ECHO)

    Procedure/Surgery

    An echocardiogram is an ultrasound of the heart done at rest.

  • Cardiac-related blood studies

    Procedure/Surgery

    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).

Treatment groups

100 Participants
are divided into 2 treatment groups
Group A: Individuals diagnosed with FRDA4 interventions
Group B: Healthy controls4 interventions

Trial outcomes

Primary outcomes

1

Level of troponin, BNP, and CPK in blood

Average the levels of troponin for each subject

Time frame
30 minutes
2

echocardiogram

Evaluate the results of subject's Echo cardiograms

Time frame
2 hour
3

exercise-stress test

Evaluate off the results of the exercise-stress test

Time frame
2 hour

Secondary outcomes

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Weill Medical College of Cornell University

Lead sponsor

Source ClinicalTrials.gov
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