News Feature | April 8, 2014

AAVLife Formed To Advance Gene Therapy For Friedreich's Ataxia

By Estel Grace Masangkay

The Friedreich's Ataxia Research Alliance (FARA) announced the birth of a new company, AAVLife, for the rapid development of a promising gene-therapy program for the treatment of cardiomyopathy in Friedreich’s ataxia (FA).

The founding of AAVLife is based on the groundbreaking research of FARA-funded scientist Dr. Hélène Puccio. Dr. Puccio and her colleagues reported significant results showing that gene-replacement therapy using an adeno-associated virus to deliver the frataxin gene missing in patients with FA prevented and corrected cardiac damage in an FA mouse model.

Jennifer Farmer, FARA Executive Director, said, “When we first learned of Dr. Puccio's results and saw that she was demonstrating prevention and correction of the cardiomyopathy at both the functional and cellular levels we were beyond excited because this gave us evidence that we could attack the cardiomyopathy, which takes an individual's life at an early age. While we also want to have therapies that treat the neurological aspects of the disease, the significance of the cardiac disease is often under appreciated.”

FA is a rare, degenerative, life-shortening, neuro-muscular disorder that affects balance and coordination in both children and adults. As the disease progresses it affects other organs including the pancreas, skeletal muscle, and the heart. The primary cause of early death in patients with FA (usually in the early 20’s to 30’s) is cardiomyopathy.

Ron Bartek, FARA President and co-founder, said, “The launch of AAVLife and Dr. Puccio's tremendous achievement reported in Nature Medicine represent an exciting new opportunity for the FA community that comes from our international partnership. Dr. Puccio's research was funded by public agencies in France, Europe, and the United States, and AAVLife is bringing together international expertise and resources. This partnership is essential when we are battling a rare disease like FA… FARA will continue working closely with AAVLife, FA scientists, and the patient community as, together, we drive this promising therapeutic approach forward into the clinic.”

FARA is a non-profit, charitable organization committed to accelerating research FA treatments. The organization has been in close collaboration with the founders of AAVLife since 2013.