CIRM awards $8M for gene therapy research on rare, incurable diseases

By The Science Advisory Board staff writers

December 2, 2022 -- The California Institute for Regenerative Medicine (CIRM) has awarded $8 million in grants for two research teams investigating gene therapy for rare and incurable diseases.

The first grant of $4.8 million will fund novel gene therapy aiming for one-time, lifelong treatment of Friedreich's ataxia (FA), a progressive neuromuscular disorder. FA is an inherited disorder that initially impairs motor function and can lead to scoliosis, heart disease, vision loss, and diabetes. Heart abnormalities caused by the disease can also lead to premature death. There is currently no treatment for FA, according to Stephanie Cherqui, PhD, associate professor in the department of pediatrics at University of California, San Diego (UCSD) School of Medicine.

In 2020, Cherqui and colleagues published findings that described how CRISPR-Cas9 gene editing of hematopoietic stem cells from patients with FA could work. Hematopoietic stem cells can develop into all types of blood cells. The CIRM grant will allow the team to move this approach closer to clinical trials as the funding will be used to develop a therapy based on gene-edited hematopoietic stem and progenitor cells derived from FA patients, which would be re-infused as a one-time, lifelong treatment.

"This kind of gene therapy transplantation has never been tested for FA or any other mitochondrial disease, so in this sense, it's unique," Cherqui said in a statement.

The second CIRM grant of $4 million has been awarded to biotechnology company Mazhi Therapeutics, which is developing treatments for neurodevelopmental disorders. Mazhi also has licensed technology developed at UCSD.

The funding will support the company's development of a gene therapy for the treatment of Pitt-Hopkins Syndrome, an extremely rare genetic neurological disorder that results in intellectual disabilities, impaired speech, and breathing problems in children.

Earlier this year, Alysson Muotri, PhD, professor at UCSD School of Medicine and director of the UCSD Stem Cell Program, and colleagues published research describing how the use of gene therapy tools and human brain organoids were able to reverse the effects of the gene mutation that causes Pitt-Hopkins. Muotri will serve as a consultant to Mazhi.

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