FDA approves gene therapy for a type of blindness

Luxturna is the first FDA-approved gene therapy for treating an inherited genetic mutation.

Story highlights

  • Luxturna is the first gene therapy treatment for an inherited genetic mutation
  • The treatment is set to be available in the first part of 2018

(CNN)The US Food and Drug Administration has approved a gene therapy treatment for patients with a rare inherited eye disease.

Voretigene neparvovec, which will be sold as Luxturna, is made by Philadelphia-based Spark Therapeutics Inc.
    The one-time treatment is approved for children and adults with retinal dystrophy due to a mutation of the RPE65 gene, which causes severe visual impairment beginning in infancy. As it progresses, patients experience gradual loss of peripheral and central vision, which can eventually lead to blindness.
    There are more than 200 genes that can cause retinal dystrophy. Patients can be tested to determine whether the cause is indeed a mutation of the RPE65 gene and they are thus a potential candidate for this new treatment.
    Luxturna is only the third gene therapy approved for use in the United States, preceded by two others this year. However, this is the first to correct an inherited genetic mutation. Some scientists believe that the approval could open the door to other treatments that correct flaws in the inherited genome.
    FDA Commissioner Dr. Scott Gottlieb called Tuesday's approval a milestone for gene therapy and noted the potential for treatment of many diseases.
    He said the approval "marks another first in the field of gene therapy -- both in how the therapy works and in expanding the use of gene therapy beyond the treatment of cancer to the treatment of vision loss."

    Adding a third gene

    Luxturna supplies a normal RPE65 gene to retinal cells. It is a liquid that is injected into the eye with a microscopic needle during a surgical procedure. Within the liquid is a gene therapy virus that contains a healthy version of the gene.
    Essentially, the drug adds a third version of the gene, which, unlike the mutated genes, is able to code for a protein crucial to vision.
    Risks of the treatment include cataracts, elevated eye pressure, retinal tears and holes, and inflammation.