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

Study Overview
=================
Brief Summary
-----------------
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.

Detailed Description
-----------------
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.

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

Conditions
-----------------
Confirmed Biallelic RPE65 Mutation-associated Retinal Dystrophy

Intervention / Treatment
-----------------
* Biological: AAV2-hRPE65v2,voretigene neparvovec-rzyl


Participation Criteria
=================
Eligibility Criteria
-----------------
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: 1. Previously participated in, or are currently participating in, a Spark Therapeutics clinical trial and received voretigene neparvovec-rzyl in both eyes.

Ages Eligible for Study
-----------------
Minimum Age: 12 Months

Sexes Eligible for Study
-----------------
All

Accepts Healthy Volunteers
-----------------
No

Study Plan
=================
How is the study designed?
-----------------

Arms and Interventions

| Intervention/Treatment |
| --- |
|Biological: AAV2-hRPE65v2,voretigene neparvovec-rzyl|Subretinal administration of gene therapy vector AAV2-hRPE65v2 (voretigene neparvovec-rzyl) to both eyes via surgical procedures on separate days.|

What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Collection of all Adverse Events and Serious Adverse Events | adverse events | up to 5 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Collection of Pregnancy Outcomes | Follow pregnancy outcomes in participants (and female partners of male participants) who received voretigene neparvovec | Up to 5 years | 

 Terms related to the study
=================
Keywords Provided by Centre Hospitalier Valida
-----------------
RPE65, Leber Congenital Amaurosis (LCA), Inherited Retinal Dystrophy, Retinitis Pigmentosa (RP)