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

Part of paid clinical trials in New York, New York.

Sponsor
Weill Medical College of Cornell University
Study ID
NCT02316314
Status
Recruiting
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Conditions

  • Friedreich's Ataxia

Eligibility Criteria

Sex
ALL
Age
12 Years - 50 Years
Healthy Volunteers
Accepted

Interventions

  • Cardiac magnetic resonance imaging (CMR) — PROCEDURE
    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
    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
    An echocardiogram is an ultrasound of the heart done at rest.
  • Cardiac-related blood studies — PROCEDURE
    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).

Study Details

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.

Key Dates

Start date
Jan 15, 2015
Status verified
Aug 2025
Primary completion
Aug 31, 2026
Completion
Aug 31, 2026

Study Design

Enrollment
100 participants (estimated)

Arms

  • Arm: Individuals diagnosed with FRDA
    Individuals diagnosed with FRDA, to undergo the cardiac magnetic resonance imaging (CMR), exercise-stress test, echocardiogram (ECHO), and cardiac-related blood studies
  • Arm: Healthy controls
    Individuals without FRDA, to undergo the cardiac magnetic resonance imaging (CMR), exercise-stress test, echocardiogram (ECHO), and cardiac-related blood studies

Primary Outcome Measure

Level of troponin, BNP, and CPK in blood [ Time Frame: 30 minutes ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
Weill Cornell MedicineNew YorkNew York10021
Niamh Savage, BS
[email protected]
646-962-2672
Madeline Galbraith, BS
[email protected]
646-962-2672

Find similar trials in New York, NY

By research site
Weill Cornell Medicine· New York, NY

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