Friedreich’s ataxia is a genetic, progressive, degenerative multi-system disorder with a prevalence of one in 50,000 in the United States. It is estimated that approximately 80% of these patients will develop FA cardiomyopathy.
- Rare Pediatric Disease Designation (FDA)
- US Orphan Drug Designation
Friedreich’s ataxia is a genetic, progressive, degenerative multi-system disorder with a prevalence of 1:50,000 in the United States. It is estimated that approximately 80% of FA patients will develop FA cardiomyopathy. Friedreich’s ataxia is caused by a mutation in the FXN gene that disrupts the normal production of the protein frataxin, which is critical to the function of mitochondria in a cell and to the maintenance of cardiac function.
Friedreich’s ataxia is inherited in an autosomal recessive manner, where both inherited genes are abnormal, and symptoms usually begin in childhood. Absence of fully functional frataxin leads to damage to peripheral nerves and the parts of the brain that controls movement and balance, leading to neurological symptoms that include impaired muscle coordination, or ataxia, that worsen over time.
As the disease progresses, patients typically experience various heart conditions, including thickening of the heart muscle, or hypertrophic cardiomyopathy, and arrhythmias. Hypertrophic cardiomyopathy, fibrosis, heart failure and arrhythmias are the cause of death in approximately two-thirds of Friedreich’s ataxia patients.
There is no approved treatment specifically for the cardiac manifestations of Friedreich’s ataxia. As a result, patients with cardiomyopathy associated with Friedreich’s ataxia have significant unmet need.
We are developing LX2006 as an AAV-based gene therapy delivered intravenously for the treatment of FA cardiomyopathy.
LX2006 is designed to transfer the FXN gene to myocardial cells and increase frataxin levels in the mitochondria.
The increase in frataxin levels in the mitochondria restores mitochondrial function and energy production in cardiac myocytes.
LX2006 has demonstrated the ability to significantly reverse the cardiac phenotype in preclinical studies.