We recently told how a remarkable new treatment for the very rare LCA4 (Leber Congenital Amaurosis) condition has saved the sight of the four children who took part in the study.
In telling this story, it was clear there were a number of coincidences that led to Jace receiving his life-changing gene therapy.
His parents had spent months talking to a range of clinicians, initially trying to work out whether the cause of his visual impairment was neurological or ophthalmic in nature. They had been supported by Hope in Focus, a local eye charity that happened to focus on LCA. And they attended their conference because they had finally ruled out a neurological cause for Jace’s condition; they may not have been there if it had been a couple of months earlier, before these results, and Jace might have been considered too old for the study a few months later.
Professor Michel Michaelides, consultant retinal specialist at Moorfields Eye Hospital and professor of ophthalmology at the UCL Institute of Ophthalmology, takes up the story of how he came to be at the same conference:
“I was invited by Hope in Focus to be on the panel for their conference in the USA, discussing clinical trials, and what’s coming up for LCA. I would be alongside Dr. Wiley Chambers, one of the clinical leads from the American FDA (Food and Drug Administration).
“Jace’s parents, DJ and Brendan, came over to talk to me after I mentioned the opportunity to take part in research. At that stage, they were still waiting for the results of his genetic testing but, when they confirmed a diagnosis of LCA4 AIPL1, we were delighted to welcome him onto the study.
“The three other participants in this first-ever cohort, from Tunisia and Turkey, reached out to me directly or via their clinicians. It was challenging to find children with LCA4 who were younger than four years of age and therefore potentially eligible for treatment. It’s remarkable that we found DJ and Brendan directly at a time when he was young enough to consider for treatment.
“Having worked for many years as a part of the team that developed this and other genetic treatments, I’m absolutely delighted with the change we’ve seen in the four children. I didn’t think that, in my career, I’d be involved in anything with this type of impact.”
5 March 2025
Read our summary of this life-changing new treatment here.
Hear more about the family’s story here, courtesy of Hope in Focus.
Find out about genetic therapies and how to access genetic testing here.
To find out how to participate in clinical trials at Moorfields, visit ROAM.