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Gene Vector

Gene Therapy for Leber Congenital Amaurosis (LCA Trial)

Phase 1
Waitlist Available
Led By Samuel G. Jacobson, MD, PhD
Research Sponsored by University of Pennsylvania
Eligibility Criteria Checklist
Specific guidelines that determine who can or cannot participate in a clinical trial
Must have
Clinical diagnosis of Leber congenital amaurosis (LCA)/early-onset retinal degeneration (EORD) and of severely impaired visual and retinal function, and best corrected visual acuity of 20/40 or worse in the study eye
Ability to perform tests of visual and retinal function
Must not have
Pre-existing eye conditions that would preclude the planned surgery or interfere with the interpretation of study endpoints or surgical complications
Use of immunosuppressive medications
Timeline
Screening 3 weeks
Treatment Varies
Follow Up up to 5 years
Awards & highlights
No Placebo-Only Group

Summary

This trial will help determine if a gene-carrying virus is safe for humans with a certain eye disease, which could pave the way for treatments of other eye diseases in the future.

Who is the study for?
This trial is for individuals with RPE65-associated retinal disease, which can lead to severe vision loss. It's open to adults and children (8-17 years after safety confirmation in adults). Participants must have a visible photoreceptor layer on OCT scans, be able to perform visual tests, and comply with research procedures. They should not have complicating diseases or conditions that could interfere with the study.
What is being tested?
The trial is testing a gene therapy called rAAV2-CBSB-hRPE65 delivered directly under the retina. The goal is to restore vision in those affected by certain genetic mutations causing retinal disease. This early-phase study will assess safety across different age groups before and after treatment.
What are the potential side effects?
Potential side effects are not detailed but may include ocular discomfort or inflammation from subretinal injections, systemic immune reactions due to viral vector use, and other unforeseen complications related to gene therapy.

Eligibility Criteria

Inclusion Criteria

You may be eligible if you check “Yes” for the criteria below
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I have LCA/EORD with very poor vision in my study eye.
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I can perform tests for my eyesight and retina health.
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I have a genetic eye condition caused by two RPE65 mutations.
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I have a retinal disease caused by two RPE65 mutations.

Exclusion Criteria

You may be eligible for the trial if you check “No” for criteria below:
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I don't have eye conditions that would affect surgery or study results.
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I am currently taking medications that suppress my immune system.
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I am of childbearing age and not willing to use birth control.

Timeline

Screening ~ 3 weeks
Treatment ~ Varies
Follow Up ~up to 5 years
This trial's timeline: 3 weeks for screening, Varies for treatment, and up to 5 years for reporting.

Treatment Details

Awards & Highlights

No Placebo-Only Group
All patients enrolled in this study will receive some form of active treatment.

Trial Design

1Treatment groups
Experimental Treatment
Group I: ExperimentalExperimental Treatment1 Intervention
All clinical trial subjects received the same vector.

Find a Location

Who is running the clinical trial?

University of PennsylvaniaLead Sponsor
2,084 Previous Clinical Trials
42,727,033 Total Patients Enrolled
National Eye Institute (NEI)NIH
558 Previous Clinical Trials
1,408,456 Total Patients Enrolled
Samuel G. Jacobson, MD, PhDPrincipal InvestigatorUniversity of Pennsylvania

Media Library

rAAV2-CBSB-hRPE65 (Gene Vector) Clinical Trial Eligibility Overview. Trial Name: NCT00481546 — Phase 1
Herpes simplex retinopathy Research Study Groups: Experimental
Herpes simplex retinopathy Clinical Trial 2023: rAAV2-CBSB-hRPE65 Highlights & Side Effects. Trial Name: NCT00481546 — Phase 1
rAAV2-CBSB-hRPE65 (Gene Vector) 2023 Treatment Timeline for Medical Study. Trial Name: NCT00481546 — Phase 1
Herpes simplex retinopathy Patient Testimony for trial: Trial Name: NCT00481546 — Phase 1
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