Dr. Manuela Corti, P.T., Ph.D., an RSD alumna and assistant professor in the UF College of Medicine’s department of pediatrics, received a $450,000 grant from the Italian patient advocacy group GoFAR in January. The goal of the grant is to continue developing a gene therapy for Freidrich’s ataxia, a life-shortening genetic disorder that damages the nerve system.
In 2016, the group began collaborating with the UF Powell Gene Therapy Center through a nearly $750,000 grant to Dr. Corti to develop gene therapy for Friedreich’s ataxia.
Friedreich’s ataxia symptoms typically arise in late childhood and include progressive loss of coordination and neuromuscular function. The disorder, which affects about one in 50,000 people, can also cause heart disease and diabetes.
The gene therapy project aims to treat the disease’s cardiac and neurological aspects by using a small, harmless adeno-associated virus to deliver a functional frataxin gene to the heart and nervous system. Reduced frataxin levels prevent cells from properly producing energy, leading to muscle weakness, poor muscle coordination, heart muscle disease, and difficulty with vision, hearing and speech.
The latest award will be used to complete preclinical studies and prepare data for submission to the U.S. Food and Drug Administration, the European Medicines Agency, and the Italian regulatory authority, Instituto Superiore della Sanità.
Dr. Corti, who is heading the study, said the research team is grateful for the support of GoFAR and the families who help with the program.
“Our efforts on behalf of the Friedreich’s ataxia community will hopefully correct the disease’s fundamental problem and have a meaningful impact on the quality of life for patients and their families,” she said.