New stem cell treatment improves vision for previously untreatable condition

A novel stem cell treatment has shown promising results in improving vision for patients with aniridia-related keratopathy, a previously untreatable genetic eye condition. Conducted at Moorfields Eye Hospital and University College London, the first-in-human clinical trial published in JAMA Ophthalmology demonstrated the potential of this innovative approach.

Aniridia is a rare genetic eye disorder affecting one in 40,000 to 100,000 individuals, resulting from mutations in the PAX6 gene. It causes a progressive loss of vision due to a deficiency of limbal stem cells, leading to the growth of conjunctival tissue over the cornea and forming an opaque layer that worsens vision over time.

Researchers at Moorfields and UCL developed a collagen scaffold to deliver both limbal and stromal stem cells, targeting the affected area. In the trial, nine patients with aniridia-related keratopathy underwent treatment in one eye, while the other eye served as a control. Prior to treatment, the treated eye had an average ocular surface score (OSS) of 9.4, while the untreated eye scored 8.4.

After three months, the treated eye improved to an OSS of 5.9, and after 12 months, it reached 6.7. In contrast, the untreated eye only slightly improved to 8.0 after 12 months.

The treatment also showed significant improvement in visual acuity, with patients' ETDRS scores increasing by an average of 24 letters, or nearly five lines on a standard vision chart. Professor Sajjad Ahmad, leading the study at Moorfields and UCL, highlighted the significance of this achievement, stating that this is the first-ever optical use of a collagen scaffold containing two types of stem cells, effectively treating a condition previously deemed untreatable.

The team now aims to expand this research through larger clinical trials to potentially make this treatment available through the NHS.