UI research helps win FDA approval for a breakthrough genetic therapy for a rare form of blindness

Illustration by Jordan Sellergren

On Tuesday, the U.S. Food and Drug Administration approved a breakthrough genetic therapy for a heredity condition that causes blindness. The treatment, Luxturna, was approved ahead of schedule, thanks, in part, to work done by researchers at the University of Iowa. Prior to the approval of Luxturna, there was no treatment for the rare condition, known as Leber congenital amaurosis (LCA). About 6,000 people have LCA worldwide, including 1,000 to 2,000 people in the United States.

“Today’s 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 — and this milestone reinforces the potential of this breakthrough approach in treating a wide-range of challenging diseases,” FDA Commissioner Scott Gottlieb said in a statement announcing approval of the therapy.

The gene therapy was developed by the Philadelphia-based company Spark Therapeutics. According to the Rare Disease Report, the early approval “was largely based on data from a Phase 3 study that was published in Lancet in August.”

Dr. Stephen Russell, professor of Ophthalmology and Visual Sciences at the UI Carver School of Medicine, was the lead author on the Lancet article and the one of the lead researchers on Phase 3 of the clinical trials for Luxturna.

LCA is caused by a defective gene that damages cells in the retina. The loss of sight begins in infancy and usually progresses to full blindness while the person is still young. Luxturna uses a genetically modified version of a harmless virus to implant a healthy version of the defective gene in the retina. Doctors inject the modified viruses into both of a patient’s eyes.

In the Phase 3 study, 27 of 29 treated patients had meaningful improvement in their ability to see, according to the Lancet report. Those results confirmed more than a decade’s worth of research. But a NPR report on testimony at an FDA hearing in October on the therapy showed the human side of those numbers.

“I’ve been able to see things that I’ve never seen before, like stars, fireworks and even the moon,” 17-year-old Christian Guardino said at the hearing. “I will forever be grateful for receiving gene therapy.”

Russell and 11 of his UI colleagues conducted the research for the Phase 3 study, in conjunction with researchers from the University of Pennsylvania and the Children’s Hospital of Philadelphia.

According to MD Magazine, the approval of Luxturna could help spur research into genetic therapies to treat “the 225-plus genetic mutations known to cause blindness.”

Thoughts? Tips? A cute picture of a dog? Share them with LV »


Summer Programs 2020

Get 150+ local restaurants delivered to your door in the Iowa City & Cedar Rapids areas!


July 2020 marks Little Village’s 19th anniversary. With our community of readers alongside us, we’ll be ready for what the next 19 have in store.



$10/mo or $120/year
The cost of doing this work really adds up! Your contribution at this level will cover telephone and internet expenses for one month at the LV editorial offices.


$20/mo or $240/year
$240 is enough to cover one month’s costs for sending out our weekly entertainment newsletter, The Weekender. Make a contribution at this level to put a little more oomph on your support and your weekend.


$30/mo or $360/year
(AUTO-RENEW) connects eastern Iowa culture with the world. Your contribution at this level will cover the site’s hosting costs for three months. A bold move for our boldest supporters!

All monthly and annual contributors receive:

  • Recognition on our Supporters page (aliases welcome)
  • Exclusive early access when we release new half-price gift cards
  • Access to a secret Facebook group where you can connect with other supporters and discuss the latest news and upcoming events (and maybe swap pet pics?) with the LV staff
  • Invitations to periodic publisher chats (held virtually for now) to meet with Matt and give him a piece of your mind, ask your burning questions and hear more about the future plans for Little Village, Bread & Butter Magazine, Witching Hour Festival and our other endeavors.