An 11-year-old girl has become the first patient in the UK to receive groundbreaking eye gene therapy.
Catherine L’Estrange, from North Acton, was treated at St Helier Hospital in March after being diagnosed as a baby with Bardet-Biedl syndrome (BBS), a rare genetic condition that causes progressive vision loss and can lead to blindness by the late teens or early 20s.
The experimental gene therapy, only the second of its kind ever performed globally, involved injecting healthy copies of a gene directly into her retina.
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Neruban Kumaran, consultant eye surgeon at Epsom and St Helier University Hospitals NHS Trust, said: "By giving a healthy copy of the gene, it helps save those cells, and the hope is to either stabilise or improve vision."
BBS affects around one in 100,000 births in the UK.
As well as vision loss, it can cause kidney problems, learning difficulties, obesity and sometimes extra fingers or toes.
The treatment, developed by biotechnology company MeiraGTx, works by targeting the retina, where the loss of small cells leads to blindness.
Catherine said: "If this treatment works, it will help me to carry on seeing things around me, and most of all I will be able to carry on reading books, which is one of my favourite things to do."
He said: "We were told that possible gene therapy was many, many years away, and was likely to arrive after Catherine had entirely lost her sight – so we were surprised and delighted when we learned this treatment had become available, and that Catherine would be one of the first patients in the world to receive it."
So far, only one of Catherine’s eyes has been treated and results are awaited.
Moorfields Eye Hospital, Great Ormond Street and St Helier Hospital worked together to identify eligible patients.
Mat Shaw, chief executive of St George’s, Epsom and St Helier Hospitals Group, said: "I’m so proud that our teams are offering hope to these children and their families, which aims to stop childhood blindness in its tracks."
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