Congenital Achromatopsia

Title A Multiple-Site, Phase 1/2, Safety and Efficacy Trial of AGTC-402, a Recombinant Adeno-associated Virus Vector Expressing CNGA3, in Patients With Congenital Achromatopsia Caused by Mutations in the CNGA3 Gene

MEEI Protocol ID


National Clinical Trial (NCT) Number 





Applied Genetic Technologies Corp (AGTC)

Principal Investigator

Rachel Huckfeldt, M.D. Ph.D.

Study Design

This will be a non-randomized, open-label, Phase 1/2 study.

Safety will be monitored by evaluation of ocular and non-ocular adverse events and hematology and clinical chemistry parameters.Efficacy parameters will include visual acuity, light discomfort testing, color vision, static visual field, ERG, adaptive optics retinal imaging and OCT.

Study Objective

This will be a study of the safety and efficacy of AGTC-402 administered to one eye by subretinal injection in individuals with achromatopsia caused by mutations in the CNGA3 gene.

The primary study endpoint will be safety and the secondary study endpoint will be efficacy.

Who is Eligible

Individuals 6 years of age.

Inclusion criteria include:

  1. Retinal disease consistent with a diagnosis of achromatopsia and documented mutations in both alleles of the CNGA3 gene;
  2. Able to perform tests of visual and retinal function;
  3. Visual acuity in the study eye not better than 55 ETDRS letters (Snellen equivalent 20/80) based on the average of two examinations at the baseline visit;
  4. Acceptable laboratory parameters;
  5. For females of childbearing potential: A negative pregnancy test within 2 days before administration of study agent.

Exclusion Criteria include:

  1. Presence of myopia which, in the opinion of Investigator, may create increased surgical risk for the subject in the study eye;
  2. Evidence of degenerative myopia in the study eye;
  3. Pre-existing eye conditions that would contribute to vision loss in either eye or increase the risk of subretinal injection in the study eye.

Subject Enrollment

Subjects will be enrolled sequentially in four groups. Subjects in Groups 1, 2 and 3 will be at least 18 years of age and will receive a lower, middle or higher dose of study agent. Subjects in Group 4 will be at least 6 years of age and will receive the maximum tolerated dose identified in Groups 1, 2 and 3.

Study Procedures

Study agent administration will occur on Day 0.  There will be a screening visit that will occur within 3 months prior to study agent administration and a baseline visit that will occur within 7 days prior to study agent administration.  Additional visits will occur 1, 7 and 14 days and 1, 2, 3, 6, 9 and 12 months and 2, 3, 4 and 5 years after study agent administration. 

These study visits may include; physical exam, blood tests, eye exam, visual function tests, color vision test, reading speed test, light discomfort test, optical coherence tomography (OCT), fundus photography, electroretinogram (ERG), and study treatment.

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