A Phase I/II Dose Escalation Safety Study of Sub-Retinally Injected AAV expressing CNGB3, Administered to Patients with Achromat

The purpose of this study is to learn about a new gene therapy that may help patients with Achromatopsia. 

This is the first study that aims to treat Achromatopsia disease by gene therapy. The study investigators want to find out whether it is safe for use in humans. The gene therapy is given by a surgical injection into the retina (the lining of the back of the eye that detects light) of one eye. The eye with worse vision will receive the gene therapy.  

Some of the eligibility criteria for this study are: 

• Must be eighteen (18) years and older for Groups 1-3 and six (6) years and older for Group 4.
• Must have clinical diagnosis of Achromatopsia. 
• Must have a documented mutation in the CNGB3 gene, which is one of the genes linked to Achromatopsia. 
• Must have visual acuity no better than 20/80 in the eye that will receive the gene therapy for Group 1, 2, 3, &4. 
• Good general health including no history of diabetes, liver disease, or other ocular diseases such as glaucoma. 

This study will occur at the Casey Eye Institute in Portland, OR, with two (2) trips to the Medical College of Wisconsin (MCW) for additional testing if the patient participated in the natural history study ("Clinical and Genetic Characterization of Individuals with Achromatopsia" OHSU IRB No. 9595), or three (3) trips to MCW if the patient did not participate in the natural history study. Participation in this study will last for a total of five (5) years. There are twelve (12) required study visits in the first year of the study, thereafter once a year for the next four (4) years. Each study visit may span one to two (1-2) days and will involve functional vision tests, dilated eye exams, and blood draws.  

If you are interested in learning more about this study or have a patient that you believe would be a good candidate, please call the study coordinator at 503-494-0020 or email.

Principal Investigator: Mark Pennesi, M.D., Ph.D.
Casey Eye Institute
3375 SW Terwilliger Blvd.
Portland, OR 97239
eIRB#: 15224