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New Treatment May Save Eyesight in Children With ‘Devastating’ CLN2 Disease | Health

Eight children born in England with a “devastating” genetic disease were the first in the world to receive “breakthrough” treatment aimed at preventing blindness.

Doctors at Great Ormond Street Hospital in London are testing a drug they believe can save eyesight in children with Batten’s disease, CLN2. Brineura, which has already been successful in animals, is administered to four boys and four girls according to the “compassionate use” principle.

The breakthrough treatment works by restoring a “missing” enzyme that the nerves in the back of the eye need to function. Clinicians and families hope that over the next year a body of evidence can be built that will allow the drug to be more widely offered to affected children around the world.

CLN2 disease is caused by a change in a gene that is responsible for producing a vital enzyme in the nervous system. The enzyme recycles waste and without it, waste builds up. Affecting 50 children in the UK and hundreds worldwide, CLN2 causes seizures first, then gradually decreases their ability to walk, speak and see, and progressive dementia. Life expectancy is 10 to 12 years.

The Carroll family has been affected by CLN2 twice: eight-year-old Amelia and her ten-year-old brother Ollie both have it. It’s too late to save Ollie’s eyes, but Amelia has been selected for the trial.

Her mother, Lucy, from Cheshire said, “We saw our son Ollie go blind and now the same thing is starting with Amelia. But we were given this chance, this hope. It would be incredible to save a child’s eyesight and make such a big difference to Amelia’s quality of life. “

Carroll said that “any vision” saved for Amelia is “better than nothing,” adding, “We just hope that it can prove this treatment works so that children can get it in both eyes and in the future.” they can save. “Sight.”

Lucy and Mike Carroll with Ollie and Amelia.Lucy and Mike Carroll with Ollie and Amelia. Photo: Richard Saker / The Observer

After Ollie turns 11 in January, Carroll realizes that he may not have long to live now. “We learned to be the last to live every day,” she said. “And create as many memories as possible – just spend as much time as possible with the children as a family.”

The drug, which is being tested, is already being used to prevent neurological deterioration in children with Batten’s disease. Brineura was first approved for the NHS in 2019 and is given directly into the brain through a regular infusion. It has been shown to restore enzyme activity and slow the onset of disability.

But while it is effective in preventing loss of movement and speech, brain infusion does not prevent children from losing their eyesight because it cannot reach the nerves in the eye. As part of the program at Great Ormond Street Hospital, clinicians use the tiny amount of drug left over from the brain infusion and inject it directly into the fundus of the children’s eyes.

The eight patients, between the ages of four and ten years, were selected by doctors to test the treatment under general anesthesia after it was shown to be safe and effective in animals. Doctors treat one eye of each child every two months and compare the visual difference between the two eyes after a year.

The study only became possible after a huge fundraiser led by the families of children affected by the disease and the Batten Disease Family Association (BDFA). Together they have raised over £ 200,000 in hopes the process can change the lives of others.

A second child undergoing the new treatment is eight-year-old London-born Kavyansh.

His father, Dr. Rahul Dubey said, “Kavy was diagnosed with CLN2 when he was just four years old and nothing could have been more devastating. The brain infusions helped stabilize Kavy, but watching his eyesight deteriorate over the years and lose confidence was very painful.

“Like so many other families of children with this terrible disease, we knew we had to do everything in our power and worked closely with the GOSH clinical team to get this program off the ground. We are very happy that Kavy has a chance to keep the little eyesight he still has; it means everything to us. “

Dr. Paul Gissen, volunteer childhood metabolic disease advisor at Great Ormond Street Hospital, said, “The enzyme replacement therapy given to the brain has completely changed the lives of children with Batten’s CLN2-type disease, but it has been difficult watch their eyesight worsen while their other physical symptoms are better controlled. The multidisciplinary team at GOSH has worked hard to find a way to treat this and it has only been possible thanks to the fundraising and tireless work of the patients’ families. “

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