CIRM Funds $4.7M for BCM Gene Therapy

The California Institute for Regenerative Medicine (CIRM) has awarded $4.7 million to the Blue Gen Therapeutics Foundation, led by Principal Investigator Aaron Nagiel, MD, PhD, to support the development of a gene therapy for blue cone monochromacy (BCM)—a rare inherited eye disease that severely impairs color vision and visual function.

Late-Stage Preclinical Research Funding for Gene Therapy

The grant is part of CIRM’s late-stage preclinical projects program, which provides financial support for research aimed at achieving Investigational New Drug (IND) status with the U.S. Food and Drug Administration (FDA). These projects are typically close to entering human clinical trials and must demonstrate robust preclinical efficacy and safety data.

Project Focus: One-Time AAV-Based Gene Therapy

Dr. Nagiel and his team will use the funding to advance a novel, intravitreal adeno-associated virus (AAV)-based gene therapy designed to deliver a functional copy of the L-opsin gene directly to cone photoreceptor cells in the retina. The therapeutic goal is to restore red and green photoreceptor function, which is disrupted by genetic mutations in individuals with BCM.

“This funding decision by CIRM represents a huge milestone for BCM patients, their families, and the entire retinal dystrophy community as we move this therapy further towards clinical trials,” said Dr. Aaron Nagiel, Blue Gen Therapeutics Foundation.

Understanding Blue Cone Monochromacy (BCM)

Blue cone monochromacy (BCM) is typically diagnosed in infancy and leads to significant visual impairment. Individuals affected by BCM often experience:

• Low vision

• Light sensitivity (photophobia)

• Impaired color discrimination

• Nystagmus (involuntary eye movements)

At present, treatment options are limited to symptomatic management, with no approved therapies available to address the underlying cause of the disease.

CIRM Provides Funding Support for BCM Gene Therapy Research

“This award reflects CIRM’s commitment to supporting cutting-edge science that has the potential to change lives,” said Shyam Patel, PhD, Associate Vice President of Preclinical Development at CIRM.
“Blue cone monochromacy is a rare but deeply impactful disease with no meaningful treatment options. We’re proud to support Dr. Nagiel and the team at Blue Gen Therapeutics Foundation as they work to advance a potential one-time gene therapy treatment that aims to restore vision and improve quality of life for individuals living with this condition.”