Achromatopsia CNGA3

A Multiple-Site, Phase 1/2, Safety and Efficacy Trial of AGTC-402, a Recombinant Adeno-associated Virus Vector Expressing CNGA3,

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

Eligibility criteria: 

  • Must be between the ages of 6 and 55 years old. 
  • Must have clinical diagnosis of Achromatopsia. 
  • Must have a documented mutation in the CNGA3 gene, which is a gene linked to Achromatopsia. 
  • Must have visual acuity no better than 20/80 in the eye that will receive the gene therapy. 
  • Good general health. 

This study will occur at the Casey Eye Institute in Portland, OR. Participation in this study will last for a total of five years. There are 12 required study visits in the first year of the study, thereafter once a year for the next four years. Each study visit 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#: 16018  

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