A Patient Registry Study for Patients Treated With Voretigene Neparvovec

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.

Inclusion Criteria:

1. Received voretigene neparvovec-rzyl in at least one eye.

2. 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.