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

Description

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

Friedreich's Ataxia

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Study Overview

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Study Details

Study overview

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.

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

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

Condition
Friedreich's Ataxia
Intervention / Treatment

-

Contacts and Locations

New York

Weill Cornell Medicine, New York, New York, United States, 10021

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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)
  • * 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)
  • * 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

Ages Eligible for Study

12 Years to 50 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

Yes

Collaborators and Investigators

Weill Medical College of Cornell University,

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

Study Record Dates

2025-08