Early intervention is crucial for long-term outcomes in paediatric gene therapy

At the Retina World Congress (RWC) in Fort Lauderdale, Florida, the Eye Care Network spoke with Siegfried Priglinger, MD. Prof Priglinger is director and chairman of the University Eye Hospital of the Ludwig-Maximilians-Universität, in Munich, Germany. The research he presented at the RWC focused on paediatric patients with inherited retinal diseases (IRDs), with an emphasis on studies into the RPE65 gene.

Prof Priglinger said that early intervention is key for ensuring the best outcomes for preschool-aged patients. One common IRD among this patient group is a defect of the RPE65 gene, which is responsible for activating photoreceptors in the retina. According to Prof Priglinger, it's up to general ophthalmologists to act fast when they suspect a patient may have a retinal disorder that requires specialist intervention.

"[General ophthalmologists] should always think of an IRD, and send patients to a specialist, to make sure these kids are recognised very soon," he urged. He went on to say that developing visual acuity is vital, and feasible for many young patients, who could experience protection or restoration of vision early on in their academic careers—a key indicator of long-term positive outcomes. "They can read and go to school, and just have a normal life," Prof Priglinger said.

He also noted that the world of gene therapy is expanding at an extraordinary rate, which could lead to an exponential increase in the number of therapies available. "What I would love is to have a treatment for every gene defect. It took more than 20 years for RPE65," he said. "Hopefully it's not going to take 25 years for each gene defect, but I'm pretty sure that researchers are going to solve this problem."