The purpose of this study is to test the safety of the study drug, AAVrh.10hFXN, which is an adeno-associated virus serotype rh10 gene transfer vector and see what effects it has to treat the cardiomyopathy associated with Friedreich’s ataxia (FA). The study also aims to find the highest dose of the study drug that can be given without causing severe side effects.

AAVrh.10hFXN is considered experimental, which means it has not yet been approved by the U.S. Food and Drug Administration (FDA).

FA is a severe disease that causes nervous system damage and movement problems. It usually begins in childhood and leads to impaired muscle coordination over time. Most people with this condition also have some form of heart disease. The most common type is hypertrophic cardiomyopathy, which causes thickening of the heart muscle. Currently, there is no effective treatment to alter the progression of the cardiac disease.

FA is caused by a defect (mutation) in a gene called FXN, which carries the genetic code for a protein called frataxin. Individuals who inherit two defective copies of the gene, one from each parent, will develop the disease. The heart requires energy to function normally and the protein produced by the frataxin gene is critical for energy production. In Friedreich’s ataxia, the abnormality in the frataxin gene results in insufficient frataxin protein and thus insufficient energy for the heart to function normally.

The study drug, AAVrh.10hFXN, is a gene transfer vector which uses an adeno-associated virus serotype rh.10 as a vehicle to deliver the FXN gene into heart cells. The study drug will be administered intravenously in a volume of 10 mL over 1 hour. The virus has been modified so that it is no longer infectious. It is hoped that the study drug will help produce the normal amount of frataxin, and thus return the function of the heart cells and limit the effects of the cardiac disease.

Study participation includes pre and post therapy blood work and labs. Travel related costs are available to participants.