Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA) (NCT02316314) | Clinical Trial Compass
RecruitingNot Applicable
Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA)
United States100 participantsStarted 2015-01-15
Plain-language 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.
Who can participate
Age range
12 Years – 50 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
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 screenin…
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Level of troponin, BNP, and CPK in blood
Timeframe: 30 minutes
2
echocardiogram
Timeframe: 2 hour
3
exercise-stress test
Timeframe: 2 hour
Trial details
NCT IDNCT02316314
SponsorWeill Medical College of Cornell University