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

NCT02316314 | Recruiting

• 1 other identifier: 1408015429
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

Brief 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

Friedreich's Ataxia

Keywords

Friedreich's Ataxia; Cardiomyopathy; FRDA; Ataxia

Outcome Measures

Primary Outcomes (3)

• Level of troponin, BNP, and CPK in blood

  Average the levels of troponin for each subject

  30 minutes

• echocardiogram

  Evaluate the results of subject's Echo cardiograms

  2 hour

• exercise-stress test

  Evaluate off the results of the exercise-stress test

  2 hour

Study Arms (2)

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

Procedure: Cardiac magnetic resonance imaging (CMR); Procedure: Exercise-stress test; Procedure: Echocardiogram (ECHO); Procedure: Cardiac-related blood studies

Healthy controls

Individuals without FRDA, to undergo the cardiac magnetic resonance imaging (CMR), exercise-stress test, echocardiogram (ECHO), and cardiac-related blood studies

Procedure: Cardiac magnetic resonance imaging (CMR); Procedure: Exercise-stress test; Procedure: Echocardiogram (ECHO); Procedure: Cardiac-related blood studies

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.

Healthy controls; Individuals diagnosed with FRDA

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.

Healthy controls; Individuals diagnosed with FRDA

Echocardiogram (ECHO) PROCEDURE

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

Healthy controls; Individuals diagnosed with FRDA

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).

Healthy controls; Individuals diagnosed with FRDA

Eligibility Criteria

• Age: 12 Years - 50 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study 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.

You may qualify if:

• 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)

You may not qualify if:

• 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
• 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)

Sponsors & Collaborators

• Weill Medical College of Cornell University: lead

Study Sites (1)

Weill Cornell Medicine

New York, New York, 10021, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Blood Amount: Up to 300 mL of blood will be collected for the entire study and up to 85 mL of blood will be collected for a single visit. (CBC = 5 mL per visit; Clotting = 6 mL per visit; Chemistry = 7 mL per visit; Liver function = 5 mL per visit; Cardiac enzymes = 5 mL per visit; Future serum = up to 20 mL per visit; Future plasma = up to 20ml per visit; Genetic analysis = 4 mL; HbA1c = 5mL; HIV test = 7 mL; and Anti-AAVrh.10 = 10 mL). An additional 10 ml of blood will be drawn after performing the CPET (5ml, 15 minutes +/- 15 minutes post CPET and another 5 ml 2 hours post CPET). Urine Amount: Approximately 36 mL of urine will be collected for the entire study and approximately 12 mL of urine will be collected for a single visit.

MeSH Terms

Conditions

Friedreich Ataxia; Cardiomyopathies; Ataxia

Interventions

Exercise Test

Condition Hierarchy (Ancestors)

Spinocerebellar Degenerations; Cerebellar Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Spinal Cord Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mitochondrial Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Heart Diseases; Cardiovascular Diseases; Dyskinesias; Neurologic Manifestations; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Heart Function Tests; Diagnostic Techniques, Cardiovascular; Diagnostic Techniques and Procedures; Diagnosis; Respiratory Function Tests; Diagnostic Techniques, Respiratory System; Ergometry; Investigative Techniques

Study Officials

• Ronald G Crystal, MD

  Weill Medical College of Cornell University

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Niamh Savage, BS

CONTACT

646-962-5527; nis2049@med.cornell.edu

Madeline Galbraith, BS

CONTACT

646-962-2672

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 12, 2014
• First Posted: December 12, 2014
• Study Start: January 15, 2015
• Primary Completion (Estimated): August 1, 2026
• Study Completion (Estimated): August 1, 2026
• Last Updated: August 19, 2025

Record last verified: 2025-08

Locations

US (1)