Reversing (heart) failure in Friedreich's ataxia
Heart failure accounts for over half the deaths in patients with Friedreich's ataxia, but no therapies exist to treat this neurodegenerative disease or its associated cardiomyopathy. Now, a team of French researchers has shown that i.v. frataxin gene therapy could prevent or even reverse heart failure in a mouse model of Friedreich's ataxia.1
AAVLife S.A.S., a new company founded by several team members, has licensed the findings and will test dosing and safety of direct cardiac injection of the gene therapy in healthy pigs.
Friedreich's ataxia (FRDA) is caused by inherited loss-of-function mutations in frataxin (FXN; FRDA), which encodes a mitochondrial protein involved in the assembly of iron-sulfur clusters that are essential to mitochondrial energy production.
FXN deficiency leads to degeneration of the spinal cord, resulting in progressive loss of motor function in the limbs, scoliosis, impaired vision and hearing, and speech problems. FXN deficiency also causes iron overload in cardiac mitochondria and impairs bioenergetics, thus contributing to heart failure.
There are no disease-modifying therapies to treat FRDA. Instead, disease management can include physical therapy to aid motor control, surgery to correct scoliosis and angiotensin-converting enzyme (ACE)