Brineura is tested to maintain children’s eyesight with an infant latte

Brineura (cerliponase alfa) – a therapy developed by BioMarin for late childhood Batten disease that is usually infused directly into the brain – is administered to the eyes of a select group of children with the disease with the aim of preventing vision loss.

The study, carried out by a team from Great Ormond Street Hospital (GOSH) and UCL GOS Institute of Child Health (ICH), England, will be administered on a compassionate basis, a term used to describe the prescription of experimental drugs for people who have no other treatment options.

“Treatments given for compassionate use are always subject to very rigorous evaluation and at GOSH we have a long history of pioneering these carefully researched treatments for children who have no other choice,” said Paul Gissen, PhD, in a press release. Gissen is an Honorary Consultant in Pediatric Metabolic Diseases at GOSH and ICH.

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Late childhood Batten disease, also known as CLN2, usually occurs in children between the ages of 2 and 4 and is caused by mutations in a gene that carries instructions to produce an enzyme called TPP1. The absence of TPP1 leads to the accumulation of toxic waste inside the cells, which leads to their death. Late childhood symptoms include loss of vision, seizures, and impaired mental and motor development.

Brineura is a drug approved by the United States Food and Drug Administration and the European Commission for any form of Batten disease. As Enzyme Replacement Therapy (ERT), it replaces the missing TPP1 enzyme and breaks down waste products.

Several clinical trials have shown that the therapy slows disease progression in children with CLN2 disease who received regular infusions directly into the fluid surrounding the brain.

However, children still lose their sight despite treatment because the lab-made replacement enzyme is unable to cross the blood-retinal barrier – a barrier that regulates the passage of nutrients, proteins and water in and out. of the retina, the layer of nerve cells lining the back of the eye.

Now the team of clinicians are trying to prevent vision loss in children with late childhood Batten disease by injecting a small volume of Brineura left over from the brain infusion directly into the back of the eye. The procedure is considered common and quick.

A small group of children has been carefully selected and one eye is treated every two months, up to one year. At the end of the study, the difference in sight between the two eyes will be compared. Patients undergoing the treatment are also closely monitored for any adverse effects.

“If successful, we hope that our work on this program can pave the way to saving the sight of more children with this condition to preserve their quality of life for as long as possible,” added Gissen.

The program was supported by the Batten Disease Family Association (BDFA), which led a fundraising campaign to cover the costs of the study.

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