Characterizing heart issues in Friedreich's Ataxia
Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA)
This study is testing different ways to check heart health in people with Friedreich's Ataxia to see how heart problems affect them and find better ways to spot these issues.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 100 (estimated) |
| Ages | 12 Years to 50 Years |
| Sex | All |
| Sponsor | Weill Medical College of Cornell University Academic / other |
| Locations | 1 site (New York, New York) |
| Trial ID | NCT02316314 on ClinicalTrials.gov |
What this trial studies
This study aims to assess cardiac dysfunction in individuals with Friedreich's Ataxia (FRDA) using various methods including exercise tests, cardiac magnetic resonance imaging (CMR), echocardiography (ECHO), and blood tests to evaluate cardiac health. The research will focus on identifying the most sensitive parameters for detecting cardiac involvement in FRDA, which is crucial since heart disease is a leading cause of mortality in these patients. Additionally, the study will explore the use of corneal confocal microscopy as a potential biomarker for the neurological aspects of the disease. By correlating these different assessments, the study seeks to enhance understanding of the cardiac phenotype associated with FRDA.
Who should consider this trial
Good fit: Ideal candidates for this study are males and females aged 12 to 30 with a definitive diagnosis of Friedreich's Ataxia and a left ventricle ejection fraction greater than 35%.
Not a fit: Patients with signs of cardiac failure, severe arrhythmias, or those with implanted devices that prevent MRI assessment may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved monitoring and management of cardiac health in patients with Friedreich's Ataxia.
How similar studies have performed: While individual modalities have been studied, this comprehensive approach to correlating cardiac parameters in Friedreich's Ataxia is novel and has not been extensively tested.
Eligibility criteria
Show full inclusion / exclusion criteria
Friedreich's Ataxia - Inclusion Criteria: * 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) Friedreich's Ataxia - Exclusion Criteria: * 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 Normal controls - Inclusion 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) * 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) Normal controls - Exclusion Criteria: * Individuals not deemed in good overall health by the investigator will not be accepted into the study * Signs and symptoms of cardiac failure * Moderate to severe atrial or ventricular arrhythmias * 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 or lactating * 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 sit with back support * Unable to undergo cardiac MRI with gadolinium contrast or claustrophobia * Unable to undergo exercise tests * 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
Where this trial is running
New York, New York
- Weill Cornell Medicine — New York, New York, United States (Recruiting)
Study contacts
- Principal investigator: Ronald G Crystal, MD — Weill Medical College of Cornell University
- Study coordinator: Niamh Savage, BS
- Email: nis2049@med.cornell.edu
- Phone: 646-962-5527
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.