Key Takeaways

  • Researchers at Moorfields Eye Hospital and the University College of London (UCL) Institute of Ophthalmology have developed a collagen scaffold engineered to deliver limbal epithelial stem cells and stromal stem cells to eyes with aniridia-related keratopathy.
  • Aniridia-related keratopathy causes conjunctival tissue to grow over the cornea, turning the eye opaque and forming a thickening layer that gradually worsens vision.
  • The novel therapy led to improved vision at 12 months in nine eyes—an improvement of almost five lines of vision on a standard vision chart.

A study recently published in JAMA Ophthalmology found that a breakthrough stem cell treatment for aniridia-related keratopathy (ARK) can improve patients’ vision.

This a first-in-human clinical trial for a previously untreatable rare genetic eye condition was conducted at Moorfields Eye Hospital and the University College of London (UCL) Institute of Ophthalmology.

Aniridia, a surface disorder affecting the limbal stem cells, is an inherited genetic eye disease due to a mutation of the PAX6 gene, resulting in profound vision loss. ARK is a progressive form of aniridia that leads to limbal stem cell deficiency, affecting one in 40,000 to 100,000 of the population. It causes conjunctival tissue to grow over the cornea, turning the eye opaque and forming a thickening layer that gradually worsens vision.

The Moorfields team developed a collagen scaffold engineered to deliver limbal epithelial stem cells and stromal stem cells to treat the affected area. In the trial one eye obtained this intervention while the fellow eye acted as a control.

The nine patients in the trial started with an average ocular surface score (OSS) of 9.4 in the treated eye, 8.4 in the untreated. (Scores of 0-5 are classified as mild, 6-10 moderate and 11-15 severe). The treated eyes improved to 5.9 after 3 months (6.7 after 12 months), while the untreated eyes were 8.0 after 12 months. The treated eyes’ ETDRS scores also improved by an average of 24 letters, or almost five lines of a standard vision chart.

“This is the first-ever optical use of a collagen scaffold containing two types of stem cells and has proved effective for a previously untreatable progressive condition leading to sight loss,” said Sajjad Ahmad, MBBS, PhD, study author and consultant ophthalmic surgeon at Moorfields Eye Hospital and professor of corneal regeneration at the UCL Institute of Ophthalmology. “We are now looking to take this forward to a larger clinical trial, with a view to this being accepted as an NHS treatment.”

This research was made possible by funding from Medical Research Council, Moorfields Eye Charity, and the NIHR Biomedical Research Centre at Moorfields Eye Hospital.