In the fall of 2024, the California Institute for Regenerative Medicine (CIRM) helped sponsor the Gene Therapy Initiative symposium in La Jolla, CA. While there, CIRM staff caught up with a few CIRM grantees who are working on gene therapy approaches to treating diseases. One grantee was Liz Soragni, PhD, Director of Research at the Friedreich’s Ataxia Research Alliance.

This interview is edited slightly for length and clarity.

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CIRM: Can you tell us about Friedreich’s Ataxi (FA) and your organization?
Dr. Soragni: FA is a rare, genetic, progressive neuromuscular disease. It is life-shortening and affects an estimated 5,000 individuals in the United States and 15,000 worldwide. FA is caused by a mutation in a single gene, and gene therapy is an attractive therapeutic strategy. The FA drug development pipeline includes several gene therapy approaches, some of which are currently in clinical trials.

The Friedreich’s Ataxia Research Alliance (FARA) is a non-profit organization dedicated to the pursuit of scientific research leading to treatments and a cure for FA. FARA supports research through funding competitive grants across the spectrum, from basic research through drug development and clinical research programs in FA. FARA promotes public awareness and facilitates connections among researchers both from academia and industry with the goal of advancing therapeutic development in FA. 

CIRM: What do you want people to know about FA?
Dr. Soragni: People with FA experience issues with balance and coordination that lead to a life-altering loss of mobility. Other common symptoms can include fatigue, serious heart conditions, scoliosis, and diabetes. Most people with FA begin experiencing symptoms and receive a diagnosis between the ages of 5 and 15 years. About 25% of people have late-onset FA, and they begin experiencing symptoms in adulthood.

The disease is caused by mutations in the FXN gene, resulting in a deficiency of frataxin, a protein localized in the mitochondria and important for energy production in the cell. FA affects different tissues and systems; therefore, it will likely require a combination of multiple therapeutic approaches to be able to address all symptoms.

CIRM: What therapies exist for FA?
Dr. Soragni: The first therapeutic for FA was approved in the US in 2023, on Rare Disease Day (February 28). This was an important milestone for the community, but a lot more needs to be done. The ultimate goal is to address all symptoms of FA and target all tissues implicated in the disease with therapies that will not only slow but stop and reverse the disease.   

CIRM: What is the potential and limitation of gene therapy for FA?
Dr. Soragni: Because Friedreich’s Ataxia is caused by mutations in one single gene, gene therapy holds promise as a therapeutic approach. It targets the root cause of the disease —potentially modifying the course of the disease, and if administered early enough, perhaps even preventing it. It will also likely work well in combination with other therapies.

Much progress has been made to make gene therapy safer and more effective, but there are still gaps and challenges to solve, such as overcoming limitations like immunoreactions and inability to re-dose, as well as difficulties in reaching certain targets like the brain or multiple tissues at the same time.

CIRM: What role does public funding from organizations like CIRM play in finding cures for rare diseases like FA?
Dr. Soragni: FA is a rare disease, and like many other rare diseases, represents a field of unmet needs with no cure and very limited therapeutic options. Public funding for research is essential to drive scientific progress and identify effective treatments. The regenerative medicine field benefits from high-risk, high-reward funding and long-term investment provided by public institutions like CIRM. Moreover, the commitment to share and disseminate knowledge is paramount to accelerate progress and scientific advancement.

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Written by guest contributor Amy Adams