A Phase 3 interventional study of voretigene neparvovec in Biallelic RPE65 Mutation-associated Retinal Dystrophy, sponsored by Novartis Pharmaceuticals. Completed at 1 site in Japan. Open to participants aged 4 Years to 100 Years. Per ClinicalTrials.gov, last updated 2026-06-04.
Sponsored by Novartis Pharmaceuticals · Phase 3, Interventional, and Treatment
The purpose of this study is to provide safety and efficacy data for voretigene neparvovec, administered as subretinal injection, in Japanese patients with biallelic RPE65 mutation-associated retinal dystrophy.
This is an open-label, single-arm study to evaluate the safety and efficacy of bilateral subretinal administration of voretigene neparvovec in Japanese patients with biallelic RPE65 mutation-associated retinal dystrophy. Assessments will include full-field light sensitivity threshold testing, visual fields, visual acuity, vector shedding, immunogenicity and adverse events. Participants will be monitored for 5 years after treatment.
Novartis Pharmaceuticals is the lead sponsor of 2,673 studies on the registry; 228 are open to participants now.
Of its 576 completed or terminated interventional studies of FDA-regulated products, 431 (75%) have results posted.
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Sufficient viable retinal cells as determined by non-invasive means, such as optical coherence tomography (OCT) and/ or ophthalmoscopy. Must have either:
Exclusion Criteria:
1.5 E11 vg (0.3 mL subretinal injection in each eye, 6-18 days apart)
Genetic: voretigene neparvovec
Voretigene neparvovec is an adeno-associated viral type 2 (AAV2) gene therapy vector driving expression of normal human retinal pigment epithelium 65 kDa protein (hRPE65) gene.
Change from Baseline in full-field light sensitivity threshold
Full-field light sensitivity threshold (FST) is evaluated using white light, as averaged over both eyes.
Time frame: Baseline, Day 30, 90, 180, 270, and Year 1 after second eye injection
Change from Baseline in visual field
Visual Field is assessed using the sum total degrees for VF, averaged over both eyes, as measued using Goldmann kinetic perimetry testing with a III4e target.
Time frame: Baseline, Day 14, 30, 90, 180, 270, and Year 1, 2, 3, 4, 5 after second eye injection
Change from Baseline in macular threshold
Macular threshold is assessed as averaged over both eyes, as measured using Humphrey static visual field testing.
Time frame: Baseline, Day 14, 30, 90, 180, 270, and Year 1, 2, 3, 4, 5 after second eye injection
Change from Baseline in visual acuity
Visual acuity is assessed as averaged over both eyes.
Time frame: Baseline, Day 1, and 3 after first eye injection; Day 1, 3, 14, 30, 90, 180, 270, and Year 1, 2, 3, 4, 5 after second eye injection
Change from Baseline in FST for long-term period
FST is assessed using white light, as averaged over both eyes.
Time frame: Baseline, Year 2, 3, 4 and 5 after second eye injection
Proportion of subject with the presence of vector shedding of voretigene neparvovec during the study period
Assessed as the presence of vector in peripheral blood or collected tear.
Time frame: Baseline, Day 0, 1 and 3 after first eye injection; Day 0, 1, 3, 14, 30, 90, 180, 270, and Year 1 after second eye injection
Proportion of subject with the presence of immunogenicity of voretigene neparvovec during the study period
Assessed as presence of systemic cell-mediated or humoral responses to capsid or transgene product .
Time frame: Baseline, Day 30, 90, 180, 270, and Year 1 after second eye injection
Plan to share: Yes — Novartis is committed to sharing with qualified external researchers, access to patient-level data and supporting clinical documents from eligible studies. These requests are reviewed and approved by an independent review panel on the basis of scientific merit. All data provided is anonymized to respect the privacy of patients who have participated in the trial in line with applicable laws and regulations. This trial data availability is according to the criteria and process described on www.clinicalstudydatarequest.com
No publications or documents are linked to this record.
This study is completed, as verified in Jun 2026. You cannot join it, but the record below documents what was studied.
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