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UK trial aims to save sight of children with rare genetic disease

Clinicians from Great Ormond Street Hospital and UCL GOS Institute of Child Health are exploring the use of a new treatment in children with CLN2

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A UK trial will explore the potential of the drug, Brineura, for preventing sight loss in children with CLN2 type Batten disease (CLN2).

Clinicians from Great Ormond Street Hospital (GOSH) and UCL GOS Institute of Child Health (ICH) already administer Brineura to children with the disease through infusions into the brain.

The new trial will involve exploring the effectiveness of injecting a small amount of Brineura into the back of the eye.

Scientists hope that the drug will prevent vision deterioration by providing the enzyme that the nerves at the back of the eye need to function.

The treatment will be given on a compassionate use basis.

Professor Paul Gissen, an honorary consultant in paediatric metabolic diseases at UCL and ICH, highlighted: “If successful, we hope our work on this programme can pave the way to saving the sight of more children with this disease to preserve their quality of life for as long as possible.”

The new treatment programme has been supported by the Battens Disease Family Association, with a fundraising campaign receiving £200,000 in donations.