The California Institute for Regenerative Medicine (CIRM) has awarded $7.4 million to a research team at the University of California San Diego to advance a stem cell-based gene therapy for Friedreich's ataxia. This rare inherited neurodegenerative disease leads to progressive loss of coordination, muscle strength, heart function, and mobility.
Friedreich's ataxia is caused by a genetic defect that reduces the production of frataxin, a protein necessary for healthy cellular function in the nervous system and heart. The condition affects tens of thousands in the United States and currently has no cure. Treatments available do not stop long-term decline, and most people diagnosed in childhood or adolescence face increasing mobility challenges and reduced life expectancy.
The UC San Diego team’s approach involves using patients’ own blood-forming stem cells. These cells are genetically corrected using CRISPR-Cas9 technology to remove the faulty gene, then returned to the patient. The goal is for these repaired cells to settle in bone marrow and distribute throughout the body, restoring healthy frataxin levels without repeated treatments.
The new funding will support essential steps before federal regulators can approve clinical trials in humans. These steps include animal studies to confirm safety, further testing to ensure precise genetic correction without unintended DNA changes, and efforts to manufacture modified cells at clinical-grade quality suitable for human use. The project will also finalize clinical trial design, select sites for participation, and develop plans for patient access if the therapy proves safe and effective.
For over ten years, UC San Diego researchers have been developing this therapeutic approach. Early studies showed that transplanting healthy stem cells into animal models delivered frataxin to affected tissues and prevented nerve and heart damage. More recent laboratory work demonstrated that gene-edited human stem cells could repair defects in cultured cells, improve neuron survival, and reduce inflammation linked with Friedreich's ataxia.
This award addresses a significant need within the Friedreich's ataxia community because the disease impacts multiple organs including the brain, spinal cord, heart, and pancreas. The therapy aims for repaired stem cells to reach various organs after transplantation and provide lasting benefit from a single procedure.
CIRM previously supported foundational research by Cherqui’s group in 2022 during early development stages. The current funding is intended to bring the program through its final pre-clinical phase toward an application with the Food and Drug Administration.
If approved for clinical trials, this would be the first test of gene-edited stem cell therapy for Friedreich's ataxia in humans. According to UC San Diego researchers: "For patients and families who have watched the disease progress for generations, we hope this marks the beginning of a new chapter - one focused on directly repairing the genetic cause of the disease rather than treating symptoms after the fact."
