vocabulary: Spark Therapeutics
description: >-
  Domain vocabulary covering Spark Therapeutics' gene therapy work, its
  marketed product Luxturna, and its operating context as a Roche/Genentech
  subsidiary. Spark publishes no public APIs; this vocabulary supports
  cross-referencing in the API Evangelist network rather than describing a
  developer surface.
modified: '2026-05-23'

terms:
  - term: Gene Therapy
    definition: >-
      A medicinal product whose active substance contains or consists of a
      recombinant nucleic acid intended to regulate, repair, replace, add to,
      or delete a genetic sequence in order to treat or prevent disease.
    related:
      - AAV Vector
      - Voretigene Neparvovec

  - term: Luxturna
    definition: >-
      Brand name for voretigene neparvovec-rzyl, an AAV2-based gene therapy
      delivering a functional copy of the RPE65 gene via subretinal injection.
      Approved by the FDA in December 2017 for patients with confirmed
      biallelic RPE65 mutation-associated inherited retinal dystrophy with
      viable retinal cells. The first FDA-approved gene therapy for a genetic
      disease in the United States.
    related:
      - Inherited Retinal Disease
      - RPE65
      - Voretigene Neparvovec

  - term: Voretigene Neparvovec
    definition: >-
      The international nonproprietary name (INN) for the active substance in
      Luxturna; a recombinant adeno-associated virus serotype 2 (AAV2) vector
      carrying the human RPE65 gene.
    related:
      - Luxturna
      - AAV Vector

  - term: RPE65
    definition: >-
      Retinal pigment epithelium-specific 65 kDa protein gene. Biallelic
      loss-of-function mutations cause severe inherited retinal dystrophies
      including Leber congenital amaurosis type 2 (LCA2) and retinitis
      pigmentosa.
    related:
      - Inherited Retinal Disease
      - Luxturna

  - term: Inherited Retinal Disease
    definition: >-
      A group of genetic disorders that cause progressive vision loss due to
      degeneration of photoreceptors and/or the retinal pigment epithelium.
      Luxturna addresses the subset caused by biallelic RPE65 mutations.
    related:
      - RPE65
      - Luxturna

  - term: AAV Vector
    definition: >-
      Adeno-associated virus vector used as the gene-delivery platform for
      voretigene neparvovec and many other in-vivo gene therapies. AAV2 is the
      serotype used in Luxturna.
    related:
      - Gene Therapy
      - Voretigene Neparvovec

  - term: Roche Acquisition
    definition: >-
      F. Hoffmann-La Roche completed its acquisition of Spark Therapeutics in
      December 2019 for approximately $4.3 billion. Spark continues to operate
      as a subsidiary within the Roche Group and is integrated alongside
      Genentech.
    related:
      - Roche
      - Genentech

  - term: Children's Hospital of Philadelphia (CHOP)
    definition: >-
      Spark Therapeutics was spun out of the Center for Cellular and Molecular
      Therapeutics at the Children's Hospital of Philadelphia in 2013. The
      RPE65 gene therapy research program that became Luxturna originated at
      CHOP.
    related:
      - Spark Therapeutics

  - term: MySparkGeneration
    definition: >-
      Patient support program and resource portal for individuals and families
      affected by inherited retinal disease, operated by Spark Therapeutics.
    related:
      - Luxturna

tags:
  - Gene Therapy
  - Rare Disease
  - Ophthalmology
  - Inherited Retinal Disease
  - Roche Subsidiary