A Huge Leap Forward for LCA Gene Therapy

Retinal pigment epithelium

Have you heard the exciting news from Spark Therapeutics? Spark is just finishing up its phase 3 clinical trials for their gene therapy treatment (called SPK-RPE65) intended to treat patients with LCA caused by the RPE65 gene mutation. And the results are good!


The highlights of the trial:

  • There were “no serious adverse events” related to the trial or the procedure. Obviously the FDA is very concerned about safety, so this is excellent news and gets us so much closer to having an approved treatment that is actually available to patients and their families.
  • It works! As one of the researchers put it, “We saw substantial restoration of vision in patients who were progressing toward complete blindness.”

This comes after over a decade of working on gene therapy approaches to treating blindness, and the end (or should I say the beginning) is really just around the corner. Spark is also announcing that they plan to file a “Biologics License Application” with the FDA in 2016. Yes, you read that right. 2016. As in next year!


Some things to keep in mind:

  • SPK-RPE65 is designed to treat patients who are losing vision due to mutations in the RPE65 gene (if you haven’t done genetic testing yet, now may be the time to do it).
  • Even though this therapy only treats RPE65, there are possibilities that the work being done here will have an impact on other blinding conditions in the future.
  • This is potentially a one-time treatment. If approved, you may only need to have the procedure done once to reap the benefits.
  • Even though you’ve heard news about gene therapy for years, this really is different. This represents “the first successful randomized, controlled Phase 3 trial ever completed in gene therapy for a genetic disease.” In other words, gene therapy is getting bigger and better… and treatment really could be available soon!

This trial involved 31 patients and took place over the course of a year. Spark also worked with The Children’s Hospital of Philadelphia and the Foundation Fighting Blindness. If you’d like to read more details about the trial (like how the patients were assessed and how outcomes were monitored), you can read their press release.

If you want to get in touch directly with Spark, they are very responsive! You can call them at 1-855-SPARKTX, or email patients@sparktx.com.

I think we may be finally moving beyond holding our collective breath with our fingers and toes crossed. This is very exciting!


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