Biallelic RPE65 Mutation-associated Retinal DystrophyPhase 3NCT04516369
Study of Efficacy and Safety of Voretigene Neparvovec in Japanese Patients With Biallelic RPE65 Mutation-associated Retinal Dystrophy
A Phase 3 study testing voretigene neparvovec in people with Biallelic RPE65 Mutation-associated Retinal Dystrophy, run by Novartis Pharmaceuticals at 1 site in Japan.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 4 to 100 years
- Conditions the study is for
- Biallelic RPE65 Mutation-associated Retinal Dystrophy
- What is being tested?
- voretigene neparvovec
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 4 participants
- Where
- 1 siteJapan
- Study dates
- 24 Nov 2020to 19 May 2026
- Phase
- Phase 3
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 4 to 100 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Japanese participants with biallelic RPE65 mutation-associated retinal dystrophy; molecular diagnosis of RPE65 mutation must be confirmed by a Novartis designated laboratory in Japan.
- Age four years or older.
- Visual acuity worse than 20/60 (both eyes) and/or visual field less than 20 degrees in any meridian as measured by a III4e isopter or equivalent (both eyes).
- Sufficient viable retinal cells as determined by non-invasive means, such as optical coherence tomography (OCT) and/ or ophthalmoscopy. Must have either:
- An area of retina within the posterior pole of > 100 µm thickness shown on OCT, or
- ≥ 3 disc areas of retina without atrophy or pigmentary degeneration within the posterior pole, or
- Remaining visual field within 30 degrees of fixation as measured by a III4e isopter or equivalent
Who cannot join
- Any prior participation in a study in which a gene therapy vector was administered.
- Participation in a clinical study with an investigational drug in the past 6 months from screening visit.
- Known hypersensitivity to any of the study treatments including excipients or to medications planned for use in the peri-operative period.
- Unable to reliably perform the FST assessment.
- Use of retinoid compounds or precursors that could potentially interact with the biochemical activity of the RPE65 enzyme in the past 6 months from screening visit.
- Prior intraocular surgery within 6 months from screening visit.
- Prior use of any medicines that, in the opinion of the investigator, may have caused retinal damage (e.g., sildenafil or related compounds, hydroxychloroquine, chloroquine, thioridazine, any other retino-toxic compounds)
- Pre-existing eye conditions or complicating systemic diseases that would preclude the planned surgery or interfere with the interpretation of study. Complicating systemic diseases would include those in which the disease itself, or the treatment for the disease, can alter ocular function.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: An Open-label, Single-arm Study to Provide Efficacy and Safety Data of Voretigene Neparvovec Administered as Subretinal Injection in Japanese Patients With Biallelic RPE65 Mutation-associated Retinal Dystrophy
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.
Read the detailed description
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.
- Being tested
- voretigene neparvovec
- Keywords
- LTW888, voretigene neparvovec, Biallelic RPE65 mutation-associated retinal dystrophy, Japanese patients
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
voretigene neparvovecGenetic
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.
| Study group | Role | What they receive |
|---|---|---|
| Voretigene neparvovec | Experimental | 1.5 E11 vg (0.3 mL subretinal injection in each eye, 6-18 days apart) Receives: Genetic: voretigene neparvovec |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Baseline, Day 30, 90, 180, 270, and Year 1 after second eye injection
Secondary outcomes (6)
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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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 .
Measured: Baseline, Day 30, 90, 180, 270, and Year 1 after second eye injection
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Aug 2020
- Study start24 Nov 2020
- Primary completion5 Apr 2022
- Study completion19 May 2026
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Biallelic RPE65 Mutation-associated Retinal DystrophyStudies of the same condition, open and under way.
- More trials run by Novartis PharmaceuticalsThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 3
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 4 participants (actual)
Sponsor and investigators
- Lead sponsor
- Novartis Pharmaceuticals
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Novartis Pharmaceuticals, Study director, Novartis Pharmaceuticals
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04516369
- Sponsor's protocol ID
- CLTW888A11301
- Other IDs
- 2019-003781-41, 2019
- Status last verified
- Jun 2026
- First submitted
- 10 Aug 2020
- Last updated
- 4 Jun 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- 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
Study at a glance
From the registry record, last updated by the sponsor on 4 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An Open-label, Single-arm Study to Provide Efficacy and Safety Data of Voretigene Neparvovec Administered as Subretinal Injection in Japanese Patients With Biallelic RPE65 Mutation-associated Retinal Dystrophy
- ClinicalTrials.gov ID
- NCT04516369
- Acronym / sponsor ID
- CLTW888A11301
- Keywords
- LTW888, voretigene neparvovec, Biallelic RPE65 mutation-associated retinal dystrophy, Japanese patients
- Phase
- Phase 3
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 4 participants (actual)
- Lead sponsor
- Novartis PharmaceuticalsIndustry (pharma, biotech, devices)
- Study start
- 24 Nov 2020 (actual)
- Primary completion
- 5 Apr 2022 (actual)
- Study completion
- 19 May 2026 (actual)
- First posted
- 18 Aug 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
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.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Voretigene neparvovec | Experimental | Genetic: voretigene neparvovec1.5 E11 vg (0.3 mL subretinal injection in each eye, 6-18 days apart) |
Who may qualify
- Ages
- 4 to 100 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (7 listed)
- Japanese participants with biallelic RPE65 mutation-associated retinal dystrophy; molecular diagnosis of RPE65 mutation must be confirmed by a Novartis designated laboratory in Japan.
- Age four years or older.
- Visual acuity worse than 20/60 (both eyes) and/or visual field less than 20 degrees in any meridian as measured by a III4e isopter or equivalent (both eyes).
- Sufficient viable retinal cells as determined by non-invasive means, such as optical coherence tomography (OCT) and/ or ophthalmoscopy. Must have either:
Key exclusion criteria (8 listed)
- Any prior participation in a study in which a gene therapy vector was administered.
- Participation in a clinical study with an investigational drug in the past 6 months from screening visit.
- Known hypersensitivity to any of the study treatments including excipients or to medications planned for use in the peri-operative period.
- Unable to reliably perform the FST assessment.
- Use of retinoid compounds or precursors that could potentially interact with the biochemical activity of the RPE65 enzyme in the past 6 months from screening visit.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| voretigene neparvovecVoretigene 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. | Genetic | Voretigene neparvovec |
Primary outcome
Change from Baseline in full-field light sensitivity threshold
Time frame: Baseline, Day 30, 90, 180, 270, and Year 1 after second eye injection
Full-field light sensitivity threshold (FST) is evaluated using white light, as averaged over both eyes.
6 secondary outcomes
Change from Baseline in visual field
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
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
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
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
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
Time frame: Baseline, Day 30, 90, 180, 270, and Year 1 after second eye injection
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 Jun 2026.
- Individual participant dataSharing planned: 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
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Novartis Pharmaceuticals study director
Novartis Pharmaceuticals
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 3 study testing voretigene neparvovec in people with Biallelic RPE65 Mutation-associated Retinal Dystrophy, run by Novartis Pharmaceuticals at 1 site in Japan.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 7 inclusion and 8 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 4 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Japan. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 3 studies compare the treatment with the current standard treatment or a placebo in a large group, to confirm how well it works and watch for side effects.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change from Baseline in full-field light sensitivity threshold (time frame: Baseline, Day 30, 90, 180, 270, and Year 1 after second eye injection). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 4 Jun 2026.