Study of Efficacy and Safety of Voretigene Neparvovec in Japanese Patients With Biallelic RPE65 Mutation-associated Retinal Dystrophy

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 Identifier: NCT04516369

Novartis Reference Number: CLTW888A11301

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All compounds are either investigational or being studied for (a) new use(s). Efficacy and safety have not been established. There is no guarantee that they will become commercially available for the use(s) under investigation. 

Study Description

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.

Condition 
Biallelic RPE65 Mutation-associated Retinal Dystrophy
Phase 
Phase 3
Overall status 
Not yet recruiting
Enrollment count 
4 participants
Start date 
Oct 26, 2020
Completion date 
May 31, 2026
Gender 
All
Age(s)
4 Years and older (Child, Adult, Older Adult)

Interventions

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.

Eligibility Criteria

Inclusion Criteria:

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

Exclusion Criteria:

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.

Contacts

Name: 
Novartis Pharmaceuticals
Phone: 
+81337978748
Name: 
Novartis Pharmaceuticals
Phone: 
Email: 

Have a question?

Call 1-999-669-6682 or email [email protected]