Four-year-old is first in UK to take part in pioneering medical trial
A little girl battling a fatal disease has become the first child in the UK to take part in a new medical trial, in the hope of finding a cure.
Four-year-old Matilda Moffatt, from Leyland, was diagnosed with the rare genetic condition, late infantile CLN2 disease, last year.
Symptoms include mental impairment, seizures, and progressive loss of sight and motor skills, meaning sufferers tend to become blind and bedridden.
They don’t tend to make it past their 12th birthday.
Matilda has been in London since the start of the year with her mum Melanie and step-dad Steve, to see if she qualifies to take part in a ground-breaking medical trial by a Californian pharmaceutical company called BioMarin.
Earlier this month, little Matilda had a hole drilled through her skull to allow the types of enzymes she is missing to be pumped into her brain.
The first procedure is set to take place today.
Melanie said: “She’s had brain scans, blood and urine tests and an EEG, and they said she is suitable for the trial.
“She will be in intensive care after the treatment, and we don’t know what sort of effect it’s going to have.
“It might slow down or reverse the process, we just don’t know, and we don’t know if there will be any side-effects.
“They’ve done this on four other children around the world, but Matilda is the first in the UK. They don’t know how it’s affected the other children yet.”
She added: “We had to give this a go. There’s no cure, so we felt like we had no choice.
“You’ve got to give anything a try, and I do worry about it, but you’ve got to stay hopeful.
“You can’t think too far ahead – you have to take each day as it comes, but I feel that Matilda being accepted for the trial has given us the first glimpse of hope.
“If I hadn’t agreed to go through with it, I would only be wishing I had and wondering what would have happened.”
And Melanie has good reason to have faith in medical trials. Her dad was one of the first people to undergo a bone marrow transplant when she was a little girl, and it saved her uncle’s life.
“We didn’t know what would happen then either,” she said. “But it saved my uncle’s life.
“I’ve got confidence in the professionals, and I know Matilda is in good hands.”
The family is staying in an apartment in London for the next three months, funded by BioMarin.
Matilda will have enzymes pumped into her brain every two weeks, with the dosage being increased as long as the treatment goes well, for the next 48 weeks.