Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA) (NCT02316314)
🩺 Plain-English Summary (8th-Grade Level)
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 join: Review the eligibility criteria below.
Location: Weill Cornell Medicine — New York, New York
Age range: 12 Years to 50 Years
🧪 Interventions in This Study
- Cardiac magnetic resonance imaging (CMR) (PROCEDURE)
- Exercise-stress test (PROCEDURE)
- Echocardiogram (ECHO) (PROCEDURE)
- Cardiac-related blood studies (PROCEDURE)
📋 "Do I Qualify?" — 1-Minute Self Screener
Instant ChecklistFull eligibility criteria are available on the official NIH protocol. View the criteria ↗
📍 All Participating Trial Locations (1 Sites)
- Weill Cornell Medicine — New York, New York
📞 Contact the Study Coordinator
Phone: (646) 962-5527
Email: nis2049@med.cornell.edu
Coordinator details come directly from the registered NIH protocol. Confirm the study is still recruiting before traveling.
💰 Cost, Insurance & Patient Rights
- 100% Free Items: The investigational treatment and protocol-required procedures are supplied at zero cost by the sponsor.
- Routine Patient Care: Under federal law (ACA § 2709) and many state statutes, routine care costs are covered during participation.
- Voluntary Participation: You may withdraw at any time without affecting your standard medical care.
More studies in Friedreich's Ataxia
- Long-Term Efficacy Study of Vatiquinone for the Treatment of Friedreich's Ataxia (FA) — Los Angeles, California
- Biomarkers in Friedreich's Ataxia — Gainesville, Florida
Explore by condition: All Friedreich's Ataxia clinical trials
💡 How to Participate
- Check the checklist above to see if you may qualify.
- Contact the study coordinator using the phone/email above.
- Ask about the visit schedule, what is covered at no cost, and any travel support.
- Confirm with your own doctor before making a decision.