A San Diego research team has snagged a $7.4 million state award to push a gene-edited stem cell therapy for Friedreich’s ataxia toward human testing. The funding will cover final safety studies, manufacturing scale-up and the regulatory work needed before the group can seek an investigational new drug application with the FDA.
In a university release, lead investigator Stephanie Cherqui said 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." According to UC San Diego, the award moves the program into its final pre-clinical stage, with an eye toward a first-in-human trial.
What the grant will pay for
The state stem cell agency pegs the award at $7,423,504 and says it will support animal safety studies, broad off-target genetic testing, clinical-grade manufacturing scale-up and work to finalize trial design and pick clinical sites. According to CIRM, those efforts are intended to generate the safety and manufacturing evidence regulators expect before an IND submission.
How the proposed treatment would work
The strategy relies on a patient’s own blood-forming (CD34+) stem cells. Researchers remove those cells, use CRISPR-Cas9 to cut out the faulty GAA repeat in the FXN gene, then return the corrected cells so they can take up residence in bone marrow and seed tissues with healthy frataxin. This autologous approach is designed to reach multiple organs, including the brain, spinal cord and heart, with a single procedure instead of repeated dosing, according to UC San Diego.
What the lab and animal work show
Peer-reviewed lab studies from the team report that CRISPR editing can remove the GAA expansion and restore frataxin expression in patient cells, while mouse experiments found that transplanted stem cells migrated into nervous tissue, muscle and heart and prevented damage. That published preclinical work provides the mechanistic backbone researchers are now scaling into IND-enabling safety studies, according to PubMed.
Industry ties and oversight
University disclosures state that Cherqui is a cofounder, shareholder and board member of Papillon Therapeutics, and that the institution reviewed those arrangements under its conflict-of-interest rules, according to Newswise. Papillon has also reported regulatory milestones for a related cell program, including an Orphan Drug designation from the FDA for its PPL-001 candidate, per Business Wire.
Regulatory road ahead
Even with the new funding, the sponsors still have to complete focused toxicology, biodistribution and off-target analyses, along with tight manufacturing controls and pre-IND discussions with the FDA, before any human trial can start. The agency’s guidance on genome-editing therapies spells out those expectations and the types of information officials generally want to see in an IND filing, according to the FDA.
Why it matters
Friedreich’s ataxia is a rare inherited disorder that impairs coordination and heart function. Prevalence estimates vary, but federal rare-disease resources put the U.S. patient population at fewer than 50,000 people, and clinicians say even modest advances could change the course of a devastating multi-organ disease, according to NIH GARD.
