What is the mechanism of action of this treatment?

Gene therapy, such as AGTC-402, targets the underlying genetic mutations responsible for color blindness, specifically CNGA3 mutations in achromatopsia. This therapy involves delivering a functional copy of the CNGA3 gene directly to the affected retinal cells via subretinal injection. By restoring the normal function of the cone photoreceptors, this treatment aims to improve color vision and overall visual function. This approach is significant for color blindness patients as it addresses the root cause of the condition, potentially offering a long-term solution rather than just symptomatic relief.

What side effects are associated with this type of intervention?

Gene therapy treatments for ocular conditions, such as the one being studied in the AGTC-402 trial for CNGA3 achromatopsia, commonly involve subretinal injections. Known side effects of such treatments can include ocular inflammation, retinal detachment, increased intraocular pressure, and cataract formation. Systemic side effects are generally rare but can include immune responses to the viral vector used in the therapy. Close monitoring by an ophthalmologist is essential to manage and mitigate these risks.

What prior FDA approvals exist?

As of now, there are no FDA-approved gene therapies specifically for the treatment of color blindness, including those targeting CNGA3 mutations like AGTC-402. Gene therapy is an emerging field, and while there are ongoing clinical trials, such as the one for AGTC-402, targeting genetic causes of achromatopsia, these treatments are still under investigation and have not yet received FDA approval.

What other types of research exist?

Promising alternatives to AGTC-402 for treating color blindness due to CNGA3 mutations include: 1) Luxturna (voretigene neparvovec), an FDA-approved gene therapy for RPE65 mutation-associated retinal dystrophy, which may pave the way for similar therapies targeting CNGA3. 2) CRISPR-Cas9 based gene editing, which is being explored for various genetic eye disorders and holds potential for precise correction of CNGA3 mutations. 3) Optogenetics, which involves using light to control cells in the retina, offering a novel approach to restoring vision in patients with retinal degenerative diseases.

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Virus Therapy

AAV Gene Therapy for Color Blindness

Phase 1 & 2

Waitlist Available

Research Sponsored by Applied Genetic Technologies Corp

Eligibility Criteria Checklist

Specific guidelines that determine who can or cannot participate in a clinical trial

Must have

Male or female subjects with documented mutations in both alleles of the CNGA3 gene

Male or female subjects with documented mutations in both alleles of the CNGA3 gene;

Must not have

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

Timeline

Screening 3 weeks

Treatment Varies

Follow Up 1 year

Awards & highlights

No Placebo-Only Group

Summary

This trial tests AGTC-402, an eye injection treatment, in people with a specific genetic vision problem. The treatment is injected under the retina to target the genetic issue directly.

Who is the study for?

This trial is for males and females with a specific type of color blindness called CNGA3 achromatopsia. Participants must have mutations in both alleles of the CNGA3 gene, be at least 18 years old (or as young as 6 for certain groups), and have visual acuity not better than 20/80. Women who can bear children must test negative for pregnancy.

What is being tested?

The trial tests AGTC-402, a new gene therapy given through an injection into one eye to treat achromatopsia caused by CNGA3 mutations. It's an open-label study, meaning everyone knows they're getting the treatment, focusing on safety first and then how well it works.

What are the potential side effects?

While specific side effects are not listed here, typical risks may include reactions at the injection site, potential worsening of vision or eye discomfort, and general risks associated with subretinal injections.

Eligibility Criteria

Inclusion Criteria

You may be eligible if you check “Yes” for the criteria below

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I have mutations in both copies of my CNGA3 gene.

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I have mutations in both copies of my CNGA3 gene.

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I have been diagnosed with achromatopsia.

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I am 18 years old or older.

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I am a woman who can have children and have a recent negative pregnancy test.

Exclusion Criteria

You may be eligible for the trial if you check “No” for criteria below:

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My eye condition is due to severe nearsightedness.

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I have eye conditions that could worsen with certain treatments.

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ 1 year

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~1 year

This trial's timeline: 3 weeks for screening, Varies for treatment, and 1 year for reporting.

Treatment Details

Study Objectives

Study objectives can provide a clearer picture of what you can expect from a treatment.

Primary study objectives

Adverse events

Secondary study objectives

Color vision

Light aversion

Visual acuity

Awards & Highlights

No Placebo-Only Group

All patients enrolled in this study will receive some form of active treatment.

Trial Design

8Treatment groups

Experimental Treatment

Group I: Group 6: MTD of AGTC-402Experimental Treatment1 Intervention

Subjects 4 to 8 y/o treated with a maximum tolerated dose of rAAV2tYF-PR1/7-hCNGA3 study drug determined by Groups 1-5.

Group II: Group 5: 3.2 x 10^12 vg/mL of AGTC-402Experimental Treatment1 Intervention

Subjects at least 18 y/o treated with 3.2 x 10\^12 vg/mL of rAAV2tYF-PR1/7-hCNGA3 study drug.

Group III: Group 4a: 1.1 x 10^12 vg/mL of AGTC-402Experimental Treatment1 Intervention

Subjects 4 to 8 y/o treated with 1.1 x 10\^12 vg/mL of rAAV2tYF-PR1/7-hCNGA3 study drug.

Group IV: Group 4: 1.1 x 10^12 vg/mL of AGTC-402Experimental Treatment1 Intervention

Subjects at least 18 y/o treated with 1.1 x 10\^12 vg/mL of rAAV2tYF-PR1/7-hCNGA3 study drug.

Group V: Group 3a: 3.6 x 10^11 vg/mL of AGTC-402Experimental Treatment1 Intervention

Subjects 6 to 17 y/o treated with 3.6 x 10\^11 vg/mL of rAAV2tYF-PR1/7-hCNGA3 study drug.

Group VI: Group 3: 3.6 x 10^11 vg/mL of AGTC-402Experimental Treatment1 Intervention

Subjects at least 18 y/o treated with 3.6 x 10\^11 vg/mL of rAAV2tYF-PR1/7-hCNGA3 study drug.

Group VII: Group 2: 1.2 x 10^11 vg/mL of AGTC-402Experimental Treatment1 Intervention

Subjects at least 18 y/o treated with 1.2 x 10\^11 vg/mL of rAAV2tYF-PR1/7-hCNGA3 study drug.

Group VIII: Group 1: 4.0 x 10^10 vg/mL of AGTC-402Experimental Treatment1 Intervention

Subjects at least 18 y/o treated with 4.0 x 10\^10 vg/mL of rAAV2tYF-PR1/7-hCNGA3 study drug.

0 / 7Eligibility criteria met

Research Highlights

Information in this section is not a recommendation. We encourage patients to speak with their healthcare team when evaluating any treatment decision.

Mechanism Of Action

Side Effect Profile

Prior Approvals

Other Research

Gene therapy, such as AGTC-402, targets the underlying genetic mutations responsible for color blindness, specifically CNGA3 mutations in achromatopsia. This therapy involves delivering a functional copy of the CNGA3 gene directly to the affected retinal cells via subretinal injection. By restoring the normal function of the cone photoreceptors, this treatment aims to improve color vision and overall visual function. This approach is significant for color blindness patients as it addresses the root cause of the condition, potentially offering a long-term solution rather than just symptomatic relief.

Dietary Supplementation of Antioxidant Compounds Prevents Light-Induced Retinal Damage in a Rat Model.Neuroprotective Gene Therapy by Overexpression of the Transcription Factor MAX in Rat Models of Glaucomatous Neurodegeneration.Retrobulbarly injecting nerve growth factor attenuates visual impairment in streptozotocin-induced diabetes rats.