The California Institute for Regenerative Medicine (CIRM) has awarded $7.4 million to support a first-of-its-kind stem cell-based gene therapy for Friedreich’s ataxia. 

The funding, awarded to a team at the University of California San Diego, will help researchers complete the final steps required by federal regulators before they can apply to begin a first-in-human clinical trial. 

Friedreich’s ataxia, while rare, affects tens of thousands of people in the US. The condition is caused by a genetic defect that reduces production of a protein called frataxin, which cells need to maintain healthy function, particularly in the nervous system and heart.  

There is currently no cure, and available treatments do not prevent long-term decline. Most individuals diagnosed in childhood or adolescence experience increasing mobility challenges and shortened life expectancy. 

First-in-kind approach offers hope for Friedreich’s ataxia patients

Researchers will pursue an approach that uses a person’s own blood-forming stem cells, removes the genetic flaw with a gene-editing technology (CRISPR-Cas9), and then returns the corrected cells to the patient. The goal is for those repaired cells to settle into the bone marrow and then migrate into tissues throughout the body and restore healthy levels of frataxin, providing benefit over the long term without the need for repeated dosing. 

“This support is essential for scientific progress and for families living with Friedreich’s ataxia,” said Stephanie Cherqui, Professor of Pediatrics at UC San Diego School of Medicine and Principal Investigator on the award.  

“The grant enables us to finish the safety studies and manufacturing work we must complete before submitting an Investigational New Drug application to the Food and Drug Administration. Each step brings us closer to being able to test this therapy in people for the first time and, ultimately, closer to hopefully changing the course of this devastating disorder.” 

The award will be seen as a positive step towards treatment within the Friedreich’s ataxia community. Given the condition impairs many parts of the body, including the brain, spinal cord, heart and pancreas, an ideal therapy would be one that can reach multiple organs.  

The hope behind this approach is that transplanting a patient’s own repaired stem cells will allow those cells to disperse throughout the body, deliver frataxin where it is needed, and provide a long-lasting effect after a single procedure. 

If the programme reaches the point of an approved clinical trial, it would become the first-ever test of a gene-edited stem cell therapy for Friedreich’s ataxia in humans. 

Bruno Quinney, Content Team, DDW