The California Institute for Regenerative Medicine has approved a $12 million grant to fund a gene therapy clinical trial to treat cystinosis.

The funding was awarded to Stephanie Cherqui, an associate professor of pediatrics at the University of California in San Diego.

Cystinosis is a rare, genetic metabolic disorder caused by mutations in the CTNS gene, which results in the buildup of the amino acid cystine throughout the body. Excess cystine forms crystals that can build up and destroy cells, slowly destroying organs—especially the kidney and eyes—and leading to premature death in early adulthood. It affects about 2500 children worldwide and while treatment can delay progression of the disease, currently there is no cure.

Cherqui will use the funding to conduct a first in human clinical trial of a gene therapy to modify a patient’s blood stem cells with a functional version of the CTNS gene. The idea is that the corrected stem cells will give rise to blood cells that mitigate the buildup of cystine in affected tissues. The trial will mainly assess the safety of the gene therapy and will also monitor participants looking for improvements in the symptoms of their disease. Trial participants are required to be 18 years or older.

Cherqui’s work received previous funding from CIRM and the Cystinosis Research Foundation that enabled preclinical studies leading to the U.S. Food and Drug Administrations permission to start a clinical trial in humans, which was given in January 2019.

“We were excited that the hematopoietic stem cells and gene therapy worked so well to prevent tissue degeneration in the mouse model of cystinosis,” said Cherqui at that time. “This discovery opened new perspective in regenerative medicine and in the application to other genetic disorders. Our findings may deliver a completely new paradigm for the treatment of a wide assortment of diseases including kidney and other genetic disorders.”

CIRM’s award funds the collaboration with the University of California Los Angeles, which will manufacture the gene therapy.

X