The state-awarded grant will support safety studies, manufacturing and clinical planning needed before applying to test the Friedreich’s ataxia treatment.
The California Institute for Regenerative Medicine has awarded $7.4 million to support a UC San Diego team developing a first-of-its-kind, stem cell-based gene therapy for Friedreich’s ataxia, a rare, inherited neurodegenerative disease that causes progressive loss of coordination, muscle strength, heart function and overall mobility.
The new funding will help the research team complete the final steps required by federal regulators before they can apply to begin a first-in-human clinical trial.
Friedreich’s ataxia affects tens of thousands of people nationwide and 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.
The grant will take the UCSD team “closer to hopefully changing the course of this devastating disorder,” Stephanie Cherqui, PhD, professor of pediatrics at UCSD School of Medicine and principal investigator on the award, said in a press release.
The researchers have spent more than a decade developing the scientific foundation for their approach.
The team will pursue an approach that uses a person’s own blood-forming stem cells, removes the genetic flaw with CRISPR-Cas9 gene-editing technology and returns the corrected cells to the patient. The goal is for those repaired cells to restore healthy levels of frataxin.
The CIRM grant will also support the teams’ additional testing and planning required before the treatment is authorized for human clinical trials.
If the program 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.
