Injection delivering the drug

The first treatment using gene therapy is for a serious genetic disease -Inherited Retinal Dystrophy (RD) -that causes vision loss and even blindness. The drug used is called Voretigene neparvovec-rzyl, commercial name LUXTURNA, and is indicated for patients who present with mutations on both alleles of the RPE65 gene (which causes retinal dystrophy and affects between 1,000 and 2,000 people only in the United States) who have sufficient viable retinal cells. It is a one-time treatment administered by subretinal injection. The trial, which included 31 patients, is in phase 3, and found that patients experienced an objective improvement in their vision one year after starting the treatment (see JAMA article HERE and prescriptions).

Functional implications of RD include:

  • Having difficulty noticing objects at ground level, head height and above
  • Tripping over or bumping into objects
  • Being unable to differentiate between the footpath and road
  • Having difficulty walking on uneven ground
  • Being particularly sensitive to glare and light
  • Having difficulty adjusting to lighting changes (e.g. at dusk or sunrise)
  • Having a limited view of objects
  • Seeing only a portion of images.

See First cell gene therapy to treat “Bubble boy” disease has been legalised in Europe

See more about gene therapy possibilities

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