Safety and Efficacy Trial of AAV Gene Therapy in Patients With CNGB3 Achromatopsia
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The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. |
ClinicalTrials.gov Identifier: NCT02599922 |
Recruitment Status :
Recruiting
First Posted : November 9, 2015
Last Update Posted : April 6, 2021
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Condition or disease | Intervention/treatment | Phase |
---|---|---|
Achromatopsia | Biological: rAAV2tYF-PR1.7-hCNGB3 | Phase 1 Phase 2 |
This will be a non-randomized, open-label, Phase 1/2 study of the safety and efficacy of AGTC-401 administered to one eye by subretinal injection in individuals with achromatopsia caused by mutations in the CNGB3 gene. The primary study endpoint will be safety and the secondary study endpoint will be efficacy.
Subjects will be enrolled sequentially in seven dosing groups. Subjects in Groups 1, 2, 3, 4, 5, and 6 will be at least 18 years of age and will receive varying dose levels of study agent. Subjects in Group 4a will be 6 to 17 years of age and will receive the same dose as Group 4. Subjects in Groups 5a and 7 will be between 4 and 8 years of age. Subjects in Group 5a will receive the same dose as Group 5, and subjects in Group 7 will receive the maximum tolerated dose identified in Groups 1, 2, 3, 4, 4a, 5, 5a, and 6.
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, functional MRI (fMRI), color brightness test and OCT.
Study Type : | Interventional (Clinical Trial) |
Estimated Enrollment : | 28 participants |
Allocation: | Non-Randomized |
Intervention Model: | Parallel Assignment |
Masking: | None (Open Label) |
Primary Purpose: | Treatment |
Official Title: | A Multiple-Site, Phase 1/2, Safety and Efficacy Trial of a Recombinant Adeno-associated Virus Vector Expressing CNGB3 in Patients With Congenital Achromatopsia Caused by Mutations in the CNGB3 Gene |
Study Start Date : | February 2016 |
Estimated Primary Completion Date : | September 2021 |
Estimated Study Completion Date : | September 2025 |

Arm | Intervention/treatment |
---|---|
Experimental: Group 1: 2.0 x 10^11 vg/mL of AGTC-401
Subjects at least 18 y/o treated with 2.0 x 10^11 vg/mL of rAAV2tYF-PR1/7-hCNGB3 study drug.
|
Biological: rAAV2tYF-PR1.7-hCNGB3
rAAV2tYF-PR1.7-hCNGB3 is a non-replicating, rep/cap-deleted, recombinant adeno-associated virus vector that expresses the CNGB3 gene.
Other Name: AGTC-401 |
Experimental: Group 2: 4.0 x 10^10 vg/mL of AGTC-401
Subjects at least 18 y/o treated with 4.0 x 10^10 vg/mL of rAAV2tYF-PR1/7-hCNGB3 study drug.
|
Biological: rAAV2tYF-PR1.7-hCNGB3
rAAV2tYF-PR1.7-hCNGB3 is a non-replicating, rep/cap-deleted, recombinant adeno-associated virus vector that expresses the CNGB3 gene.
Other Name: AGTC-401 |
Experimental: Group 3: 1.2 x 10^11 vg/mL of AGTC-401
Subjects at least 18 y/o treated with 1.2 x 10^11 vg/mL of rAAV2tYF-PR1/7-hCNGB3 study drug.
|
Biological: rAAV2tYF-PR1.7-hCNGB3
rAAV2tYF-PR1.7-hCNGB3 is a non-replicating, rep/cap-deleted, recombinant adeno-associated virus vector that expresses the CNGB3 gene.
Other Name: AGTC-401 |
Experimental: Group 4: 3.6 x 10^11 vg/mL of AGTC-401
Subjects at least 18 y/o treated with 3.6 x 10^11 vg/mL of rAAV2tYF-PR1/7-hCNGB3 study drug.
|
Biological: rAAV2tYF-PR1.7-hCNGB3
rAAV2tYF-PR1.7-hCNGB3 is a non-replicating, rep/cap-deleted, recombinant adeno-associated virus vector that expresses the CNGB3 gene.
Other Name: AGTC-401 |
Experimental: Group 4a: 3.6 x 10^11 vg/mL of AGTC-401
Subjects 6 to 17 y/o treated with 3.6 x 10^11 vg/mL of rAAV2tYF-PR1/7-hCNGB3 study drug.
|
Biological: rAAV2tYF-PR1.7-hCNGB3
rAAV2tYF-PR1.7-hCNGB3 is a non-replicating, rep/cap-deleted, recombinant adeno-associated virus vector that expresses the CNGB3 gene.
Other Name: AGTC-401 |
Experimental: Group 5: 1.1 x 10^12 vg/mL of AGTC-401
Subjects at least 18 y/o treated with 1.1 x 10^12 vg/mL of rAAV2tYF-PR1/7-hCNGB3 study drug.
|
Biological: rAAV2tYF-PR1.7-hCNGB3
rAAV2tYF-PR1.7-hCNGB3 is a non-replicating, rep/cap-deleted, recombinant adeno-associated virus vector that expresses the CNGB3 gene.
Other Name: AGTC-401 |
Experimental: Group 5a: 1.1 x 10^12 vg/mL of AGTC-401
Subjects 4 to 8 y/o treated with 1.1 x 10^12 vg/mL of rAAV2tYF-PR1/7-hCNGB3 study drug.
|
Biological: rAAV2tYF-PR1.7-hCNGB3
rAAV2tYF-PR1.7-hCNGB3 is a non-replicating, rep/cap-deleted, recombinant adeno-associated virus vector that expresses the CNGB3 gene.
Other Name: AGTC-401 |
Experimental: Group 6: 3.2 x 10^12 vg/mL of AGTC-401
Subjects at least 18 y/o treated with 3.2 x 10^12 vg/mL of rAAV2tYF-PR1/7-hCNGB3 study drug.
|
Biological: rAAV2tYF-PR1.7-hCNGB3
rAAV2tYF-PR1.7-hCNGB3 is a non-replicating, rep/cap-deleted, recombinant adeno-associated virus vector that expresses the CNGB3 gene.
Other Name: AGTC-401 |
Experimental: Group 7: MTD of AGTC-401
Subjects 4 to 8 y/o treated with a maximum tolerated dose of rAAV2tYF-PR1/7-hCNGB3 study drug determined by Groups 1-6.
|
Biological: rAAV2tYF-PR1.7-hCNGB3
rAAV2tYF-PR1.7-hCNGB3 is a non-replicating, rep/cap-deleted, recombinant adeno-associated virus vector that expresses the CNGB3 gene.
Other Name: AGTC-401 |
- Adverse events [ Time Frame: 1 year ]Proportion of participants experiencing grade 3 or greater adverse events
- Visual acuity [ Time Frame: 1 year ]Changes in best corrected visual acuity compared to pre-treatment
- Light aversion [ Time Frame: 1 year ]Changes in light discomfort testing compared to pre-treatment
- Color vision [ Time Frame: 1 year ]Changes in color vision testing compared to pre-treatment

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
Ages Eligible for Study: | 4 Years and older (Child, Adult, Older Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Inclusion Criteria include:
- Male or female subjects with documented mutations in both alleles of the CNGB3 gene;
- Retinal disease consistent with a clinical diagnosis of achromatopsia;
- At least 18 years of age for Groups 1, 2, 3, 4, 5 and 6. At least 6 years of age for Group 4a, and 4-8 years of age for Groups 5a and 7;
- Able to perform tests of visual and retinal function;
- 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;
- Acceptable laboratory parameters;
- For females of childbearing potential: A negative pregnancy test within 2 days before administration of study agent.
Exclusion Criteria include:
- Best-corrected visual acuity difference between the two eyes of > 15 ETDRS letters (3 lines);
- Evidence of degenerative myopia in the study eye;
- Pre-existing eye conditions that would contribute to vision loss in either eye or increase the risk of subretinal injection in the study eye.

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02599922
Contact: Jill Dolgin, PharmD | 833-770-2862 | advocacy@agtc.com |
United States, California | |
University of California, San Francisco | Not yet recruiting |
San Francisco, California, United States, 94158 | |
United States, Florida | |
VitreoRetinal Associates | Recruiting |
Gainesville, Florida, United States, 32607 | |
Bascom Palmer Eye Institute | Recruiting |
Miami, Florida, United States, 33136 | |
United States, Illinois | |
Pangere Center for Inherited Retinal Diseases, The Chicago Lighthouse for People Who Are Blind or Visually Imp | Completed |
Chicago, Illinois, United States, 60608 | |
United States, Massachusetts | |
Massachusetts Eye and Ear Infirmary | Recruiting |
Boston, Massachusetts, United States, 02114 | |
Boston Children's Hospital | Recruiting |
Boston, Massachusetts, United States, 02115 | |
United States, New York | |
Columbia College of Physicians and Surgeons | Completed |
New York, New York, United States, 10032 | |
United States, North Carolina | |
Duke Eye Center, Duke University Medical Center | Recruiting |
Durham, North Carolina, United States, 27710 | |
United States, Ohio | |
Cincinnati Eye Institute | Recruiting |
Cincinnati, Ohio, United States, 45242 | |
Cleveland Clinic, Cole Eye Institute | Not yet recruiting |
Cleveland, Ohio, United States, 44195 | |
United States, Oregon | |
Casey Eye Institute, Oregon Health and Sciences University | Recruiting |
Portland, Oregon, United States, 97239 | |
United States, Texas | |
Baylor College of Medicine | Recruiting |
Houston, Texas, United States, 77030 | |
United States, Wisconsin | |
University of Wisconsin, McPherson Eye Research Institute | Not yet recruiting |
Madison, Wisconsin, United States, 53705 | |
Israel | |
Hadassah-Hebrew University Medical Center | Not yet recruiting |
Jerusalem, Israel, 91120 |
Study Director: | Matt Feinsod, MD | Applied Genetics Technologies Corporation |
Publications:
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
Responsible Party: | Applied Genetic Technologies Corp |
ClinicalTrials.gov Identifier: | NCT02599922 |
Other Study ID Numbers: |
AGTC_CNGB3-001 R24EY022023 ( U.S. NIH Grant/Contract ) |
First Posted: | November 9, 2015 Key Record Dates |
Last Update Posted: | April 6, 2021 |
Last Verified: | April 2021 |
Studies a U.S. FDA-regulated Drug Product: | Yes |
Studies a U.S. FDA-regulated Device Product: | No |
Color Vision Defects Vision Disorders Sensation Disorders Neurologic Manifestations |
Nervous System Diseases Cone Dystrophy Eye Diseases, Hereditary Eye Diseases |