A Patient Registry Study for Patients Treated With Voretigene Neparvovec in US

The objective of this study is to collect long-term safety information (i.e., for 5 years after treatment) associated with voretigene neparvovec-rzyl (vector and/or transgene), its subretinal injection procedure, the concomitant use of corticosteroids, or a combination of these procedures and products.

The enrollment period will last for two years from the first treatment following product approval (through 31March2020) and include a minimum of 40 patients.

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Key information

Conditions

Confirmed Biallelic RPE65 Mutation-associated Retinal Dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities Eye Diseases Eye Diseases, Hereditary Genetic Diseases, Inborn Leber Congenital Amaurosis Retinal Degeneration Retinal Diseases Retinal Dystrophies Retinitis Pigmentosa

Age range

12 month and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Children's Hospital of Los Angeles, Los Angeles, California, United States

About this study

Voretigene neparvovec-rzyl is a gene therapy intended for use in individuals with confirmed biallelic RPE65 mutation-associated retinal dystrophy and viable retinal cells. Mutations in the RPE65 gene are associated with several clinical manifestations including nyctalopia, decreased visual field and decreased visual acuity. Voretigene neparvovec-rzyl uses a non-pathogenic recombinant adeno-associated virus vector serotype 2 (AAV2) to deliver cDNA encoding RPE65 protein to target cells in the retina. Voretigene neparvovec-rzyl is administered to each eye via subretinal injection. The administration of voretigene neparvovec-rzyl is recommended to be performed to each eye on separate days within a close interval. Prescribing information recommends an immunomodulatory regimen concomitant with administration, with the actual regimen dependent upon the dosing center.

This post authorization safety study will focus on further characterizing the long-term safety profile of voretigene neparvovec-rzyl in patients with RPE65 mutation-associated retinal dystrophy using an observational, longitudinal design.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Received voretigene neparvovec-rzyl in at least one eye.
Signed informed consent/assent (when applicable). These are obtained as required under institutional policies and applicable laws and regulations unless a consent waiver is obtained from the Institutional Review Board (IRB)/Independent Ethics Committee (IEC).

Exclusion criteria

Previously participated in, or are currently participating in, a Spark Therapeutics clinical trial and received voretigene neparvovec-rzyl in both eyes.

Treatment and study plan

AAV2-hRPE65v2,voretigene neparvovec-rzyl

Biological

Subretinal administration of gene therapy vector AAV2-hRPE65v2 (voretigene neparvovec-rzyl) to both eyes via surgical procedures on separate days.

Other names: AAV2-hRPE65v2, voretigene neparvovec, gene therapy vector

Primary outcomes

Collection of all Adverse Events and Serious Adverse Events

Time frame: up to 5 years

adverse events

Secondary outcomes

Collection of Pregnancy Outcomes

Time frame: Up to 5 years

Follow pregnancy outcomes in participants (and female partners of male participants) who received voretigene neparvovec

Sponsors and collaborators

Lead sponsor

Spark Therapeutics, Inc.

Industry

Registry information

Official study title

A Post-Authorization, Multicenter, Longitudinal, Observational Safety Registry Study for Patients Treated With Voretigene Neparvovec in US

Important dates

Study start: 2019
Primary completion: 2025
Study completion: 2025
First posted: Jul 24, 2018
Registry last updated: Sep 22, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed