Cardiac MRI and Biomarkers in Friedreich’s Ataxia

CLOSED TO ENROLLMENT – DATA BEING ANALYZED

Principal Investigator: Kimberly Lin, MD, Children’s Hospital of Philadelphia
Sponsor: FARA

This prospective study hopes to learn more about heart disease in Friedreich’s ataxia (FRDA) through new blood and imaging tests. Patients will need to have genetically confirmed FRDA due to homozygosity for a GAA repeat expansion in intron 1 of FXN. This study entails record review of all cardiac testing (such as ECG’s and echocardiograms) and is open to patients between the ages of 10 and 50 years of age. 

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To inquire about research studies related to FA cardiomyopathy, call Felice Wilson at 267-426-2995.