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

NCT02316314 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 100

Last updated 2025-08-19

No results posted yet for this study

Summary

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.

Conditions

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).

Sponsors & Collaborators

  • Weill Medical College of Cornell University

    lead OTHER

Principal Investigators

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

Eligibility

Min Age
12 Years
Max Age
50 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2015-01-15
Primary Completion
2026-08-31
Completion
2026-08-31

Countries

  • United States

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02316314 on ClinicalTrials.gov