Achromatopsia

Achromatopsia is an inherited condition that is associated with loss of visual acuity, extreme light sensitivity resulting in daytime blindness, and reduced or complete loss of color discrimination, and is caused by mutations in any of several genes. The most common genes are the CNGB3 and CNGA3 genes.  There is no specific treatment for achromatopsia, although deep red tinted spectacles or contact lenses can reduce symptoms of light sensitivity.

AGTC has demonstrated proof-of-concept in naturally occurring dog and sheep models of the disease. In affected animlas, delivery of an AAV vector carrying a normal copy of the defective gene restores vision as measured by the ability to navigate a maze.

AGTC is working on two programs based on the gene mutations known as CNGB3 and CNGA3, which account for 75 percent of the patient population.

ACHM CNGB3 Clinical Trial

AGTC is currently conducting a clinical study to evaluate the safety and efficacy of an investigational gene therapy in patients with achromatopsia caused by mutations in the CNGB3 gene.

For more information, and to see whether you or someone you know qualifies to join the study, please click here to view the study page on ClinicalTrials.gov. 

If you are eligible to join the study and choose to participate, all study-related treatment costs and medical testing will be provided at no charge. Compensation for your time and travel expenses may also be provided.

ACHM CNGA3 Clinical Trial

AGTC is planning to begin a clinical study in early 2017 to evaluate the safety and efficacy of an investigational gene therapy in patients with achromatopsia caused by mutations in the CNGA3 gene.

For more information, and to see whether you or someone you know qualifies to join the study, please click here to view the study page on ClinicalTrials.gov. 

If you are eligible to join the study and choose to participate, all study-related treatment costs and medical testing will be provided at no charge. Compensation for your time and travel expenses may also be provided.

More about ACHM

Achromatopsia is caused by gene mutations that are associated with visual acuity loss, extreme light sensitivity resulting in daytime blindness and reduced or complete loss of color discrimination. Using gene therapy to deliver correct copies of the mutated gene, veterinary ophthalmology researchers from the University of Pennsylvania and Michigan State University have demonstrated proof-of-concept in a naturally occurring ACHM B3 dog model. AGTC is using a similar therapeutic technology to create first-in-class treatments for the human form of ACHM due to mutations in CNGB3.

In the video below, a dog affected by ACHM B3 is first shown being unable to navigate a maze, and is later shown navigating a maze successfully four months after treatment with a gene therapy developed by AGTC. This research is a result of collaboration between the Michigan State University College of Veterinary Medicine, the University of Pennsylvania School of Veterinary Medicine and AGTC. Special thanks to Dr. András Komáromy of Michigan State University and Dr. Gustavo Aguirre of the University of Pennsylvania for sharing the footage with us.

In addition to CNGB3 therapeutic development efforts, as demonstrated in the video below, sheep affected by achromatopsia due to CNGA3 mutations are better able to navigate a maze after receiving a gene therapy. Prior to treatment, each affected animal (as identified by an ear tag) demonstrates poor performance navigating the maze. After receiving gene therapy delivery in one eye, the same sheep (ear tag shown again) shows improved maze navigation performance. This research is a result of collaboration between the University of Florida, Hadassah-Hebrew University Medical Center, The Volcani Center, and the Hebrew University of Jerusalem. Special thanks to Dr. William W. Hauswirth at the University of Florida for sharing the video with Achroma Corp, and to Achroma Corp for sharing it with us.

Related Publications and Presentations

Development of Gene Therapy Products for Achromatopsia and X-linked Retinitis Pigmentosa

Initial Safety Evaluation of rAAV-hCNGB3 Vectors in Nonhuman Primates 

Rescue of Cone ERG Function by Treatment with AAV-hCNGB3 Vectors in CNGB3 Knockout Mice

Ocular Toxicity and Efficacy of rAAV2tYF-PR1.7-hCNGB3 Vector Following Subretinal Injection in a Mouse Model of Achromatopsia 

Photoreceptor structure and function in patients with congenital achromatopsia. 

Gene therapy rescues cone function in congenital achromatopsia. 

Development and evaluation of cone-specific promoters in non-human primates for gene therapy of congenital cone diseases including achromatopsia. 

Pang AAV-CNGA3 rescue of murine ACHM PLoSone 2012. 

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