Eight children with a devastating genetic disease in England have become the first in the world to receive a "pioneering" treatment aimed at stopping them from going blind.
Doctors at Great Ormond Street hospital in London are testing a drug to see if it can save the eyesight of children with CLN2 type Batten disease. Brineura is being administered to eight people on a compassionate use basis.
The treatment works by restoring a missingidase that nerves in the back of the eyes need to function. A body of evidence will be built up over the next year to allow the drug to be offered more widely to children affected around the world.
The cause of CLN2 disease is a change in a gene that makes a vital enzyme. Without the enzyme, waste builds up. 50 children in the UK and hundreds worldwide are affected by CLN2, which causes seizures, then a gradual decline in their ability to walk, speak and see, as well as progressive dementia. The life expectancy is between 10 and 12 years.
Amelia and her brother, Ollie, have both been struck by CLN2 twice. Amelia has been selected for the trial and it is too late to save Ollie.
Lucy said that they have watched their son go blind and now the same is happening to Amelia. We have been given a chance. It would be amazing to save a child's sight, and make a big difference to Amelia's quality of life.
If Amelia can prove that the treatment works, it will save her sight and make it possible for children to get it in both eyes.
Lucy and Mike are with some people. Richard Saker is the photographer.
With his 11th birthday in January, he may not have long to live. She said that they have learned to live every day as the last. We should spend as much time with the children as possible.
The drug being tested is already being used to help children with the disease. Brineura was approved for use on the National Health Service in 2019. It has been shown to slow the progression of disability.
Although it is effective in preventing movement and speech loss, the brain injection does not prevent children from losing their sight because it cannot reach the nerves in the eye. In the programme at Great Ormond Street hospital, clinicians are using the tiny amount of the drug leftover from the brain injection to inject it directly into the back of the eyes of the children.
The eight patients are between the ages of four and 10 and have been chosen by doctors to try the treatment on animals. Every two months, doctors treat one eye in each child, and after a year, they compare the difference in vision between the two eyes.
The trial was made possible by a huge campaign led by the families of children affected by the disease. They hope the trial can change the lives of others.
A second child is undergoing the new treatment.
His father said that nothing could have been more devastating when his son was diagnosed with CLN2. Watching his vision decline over the years has been the most painful part of watching Kavy lose confidence.
We worked closely with the clinical team at GOSH to help get this programme under way, like so many other families of children with this awful disease, we knew we had to do everything we could. We feel lucky that Kavy has a chance to keep the little sight he has left.
The lives of children with CLN2 type Batten disease have been changed by the therapy given into the brain, but it has been difficult to watch their sight decline. Thanks to the work of the patients' families, the multi-disciplinary team at GOSH has been able to find a way to treat this.
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