AGTC and BCM Families Foundation Announce Collaboration to Develop AAV-Based Gene Therapy for Blue Cone Monochromacy


Applied Genetic Technologies Corporation, a biotechnology company conducting human clinical trials of adeno-associated virus (AAV)-based gene therapies for the treatment of rare eye diseases, and the BCM Families Foundation, a non-profit organization focused on eradicating Blue Cone Monochromacy (BCM), recently announced a collaboration to develop an AAV-based gene therapy for the disease.

Blue Cone Monochromacy, also known as X-linked achromatopsia, is a rare genetic disease of the retina that almost exclusively affects males. It is a hereditary condition linked to the X chromosome that manifests with a partial dysfunction of the cones of the retina. BCM can result in reduced visual acuity, impaired color vision, photosensitivity, myopia and infantile-onset nystagmus.  These manifestations are similar to those in achromatopsia, caused by mutations in the CNGB3 or CNGA3 gene, for each of which AGTC has ongoing clinical development activities.

“The BCM Families Foundation is deeply committed to the discovery and development of biomedical and scientific research that can lead to a treatment or a cure for BCM. We are excited to announce this partnership with AGTC, a leader in ophthalmic gene therapy,” said Renata Sarno, Ph.D., President of the BCM Families Foundation. “AGTC has deep expertise in the optimization and manufacturing of novel AAV-based therapies for the treatment of inherited retinal diseases, and we are excited to work together on our mutual goal of providing treatment options for individuals affected by BCM.”

As part of the collaboration, the BCM Families Foundation will share with AGTC scientific and clinical study data that have been generated through its research efforts, and will also provide patient advocacy and clinical trial support to AGTC.  AGTC will be responsible for product development efforts and aspects of the clinical program design and execution.

“We are proud of our many longstanding collaborations with patient advocacy and research organizations, and we are honored to recognize the BCM Families Foundation as a new partner. This new co-development program complements our ongoing research and development in achromatopsia, and will utilize many of the same product components,” said Sue Washer, President and CEO of AGTC. “The BCM Families Foundation’s deep knowledge of BCM, combined with our resources and technology, has the potential to make a real difference in the lives of patients in this significantly underserved community.”

Related posts