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Gene Therapy

Gene Therapy for Leber Congenital Amaurosis

Phase 3
Waitlist Available
Led By Stephen R Russell, MD
Research Sponsored by Spark Therapeutics, Inc.
Eligibility Criteria Checklist
Specific guidelines that determine who can or cannot participate in a clinical trial
Must have
Age three years old or older
Diagnosis of LCA due to RPE65 mutations confirmed by a CLIA-approved laboratory
Must not have
Pre-existing eye conditions or complicating systemic diseases that would preclude the planned surgery or interfere with the interpretation of study
Individuals incapable of performing mobility testing (the primary efficacy endpoint) for reason other than poor vision
Timeline
Screening 3 weeks
Treatment Varies
Follow Up one year (change from baseline)
Awards & highlights
No Placebo-Only Group
Pivotal Trial

Summary

This trial is testing a gene therapy to see if it improves vision and retinal function in people with a certain gene mutation.

Who is the study for?
This trial is for individuals aged three or older with Leber Congenital Amaurosis (LCA) due to RPE65 mutations, confirmed by a lab. Participants must have poor vision but enough viable retinal cells and be able to perform mobility tests. Pregnant individuals or those not using contraception, with prior gene therapy, recent investigational drug use, or conditions affecting the study's outcome cannot join.
What is being tested?
The trial studies the safety and effectiveness of a gene therapy called AAV2-hRPE65v2 (voretigene neparvovec-rzyl). It's given as an injection into the eye to see if it can improve sight in people with specific genetic changes causing LCA. The treatment will be administered at select hospitals.
What are the potential side effects?
Possible side effects may include reactions related to eye surgery like discomfort, redness, swelling around the eyes; sensitivity issues due to medications used during surgery; and potential impact on other eye-related functions.

Eligibility Criteria

Inclusion Criteria

You may be eligible if you check “Yes” for the criteria below
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I am at least three years old.
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My LCA diagnosis due to RPE65 mutations is confirmed by a certified lab.

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 or other illnesses that would affect surgery.
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I am unable to perform mobility tests, but not because of poor vision.
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I am unable or unwilling to follow the study's procedures.
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I am not using any retinoid compounds or precursors.

Timeline

Screening ~ 3 weeks
Treatment ~ Varies
Follow Up ~one year (change from baseline)
This trial's timeline: 3 weeks for screening, Varies for treatment, and one year (change from baseline) for reporting.

Treatment Details

Study Objectives

Study objectives can provide a clearer picture of what you can expect from a treatment.
Primary study objectives
Multi-luminance Mobility Testing (MLMT), Bilateral
Secondary study objectives
Full-field Light Sensitivity Threshold (FST) Testing: White Light
Multi-luminance Mobility Testing (Monocular)
Visual Acuity

Awards & Highlights

No Placebo-Only Group
All patients enrolled in this study will receive some form of active treatment.
Pivotal Trial
The final step before approval, pivotal trials feature drugs that have already shown basic safety & efficacy.

Trial Design

2Treatment groups
Experimental Treatment
Active Control
Group I: AAV2-hRPE65v2,voretigene neparvovec-rzylExperimental Treatment1 Intervention
voretigene neparvovec rzyl, 1.5 E11 vector genomes, per eye, administered by subretinal injection in a volume of 0.3mL, 6-18 days apart
Group II: ControlActive Control1 Intervention
No intervention

Find a Location

Who is running the clinical trial?

Spark Therapeutics, Inc.Lead Sponsor
14 Previous Clinical Trials
408 Total Patients Enrolled
2 Trials studying Leber Congenital Amaurosis
24 Patients Enrolled for Leber Congenital Amaurosis
Spark TherapeuticsLead Sponsor
13 Previous Clinical Trials
323 Total Patients Enrolled
2 Trials studying Leber Congenital Amaurosis
24 Patients Enrolled for Leber Congenital Amaurosis
Children's Hospital of PhiladelphiaOTHER
729 Previous Clinical Trials
8,470,231 Total Patients Enrolled

Media Library

AAV2-hRPE65v2,voretigene neparvovec-rzyl (Gene Therapy) 2023 Treatment Timeline for Medical Study. Trial Name: NCT00999609 — Phase 3
~2 spots leftby Nov 2025
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