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Recruiting NCT02316314

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

Conditions: Friedreich's Ataxia

Sex: All
Ages: 12 Years – 50 Years
Healthy volunteers: Yes
Enrollment: 100
Sponsor: Weill Medical College of Cornell University

Location: Weill Cornell Medicine New York New York

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.

Eligibility 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% (If results of an ECHO are not available for a potential subject, then an ECHO will first be performed and subjects with an LVEF \

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View on ClinicalTrials.gov

Source: ClinicalTrials.gov (NCT02316314). StuddyBuddy aggregates publicly available trial information.