Sunderland boy will be first to take part in pioneering drug study into Sanfilippo disease

Toddler Jack Watson will be the first child to take part in a Royal Manchester Children's Hospital drug trial for those with Sanfilippo disease

Jack Watson, who has a rare genetic condition
Jack Watson, who has a rare genetic condition

Little Jack Watson will be the first child in the country to take part in a pioneering drug trial for those with a rare genetic condition.

The four-year-old has Sanfilippo disease, an incurable illness which will destroy his brain functions and physical ability.

Jack is not expected to live past his teenage years and experts say the toddler has a high chance of developing dementia at a young age.

But new hope has been offered as the toddler will this month will be the first in the country to take part in a trial run by experts at The Royal Manchester Children’s Hospital and The University of Manchester.

Mum Gemma Nelson, 31, of Ryhope, Sunderland, said: “I was skipping around the kitchen when I got the call from the hospital about Jack’s trial.”

The drugs trial aims to find out whether high doses of the treatment Genistein Aglycone is effective in people with Sanfilippo disease.

Gemma, who will soon marry fiancé Garry Watson, 34, said: “The trial can’t save Jack’s life, but it can prolong his life, giving us more memories with him. We hope the research will help to save children with Jack’s condition in the future.”

Gemma found out about the trial through The MPS Society, which was working with researchers at The Royal Manchester Children’s Hospital. She teamed up with 19 other families across the UK to fund the trial, which will cost a total of £600,000.

For a number of years, mum-of-two Gemma set about raising funds for her son to take part in the trial and more than £18,000 was raised by kind-hearted folk in the region.

Dr Brian Bigger, chief scientific investigator for the study from The University of Manchester, said: “It is fantastic to see a treatment we developed at The University of Manchester, in collaboration with clinicians, reach the point where we can test its effectiveness in patients. A US study published last year, demonstrated the safety of high doses of Genistein Alygone in patients with Sanfilippo disease.

“This new study is the first to test the effectiveness of the higher doses of Genistein, which are thought to be of the strength required to see an effect in the brain. We are looking forward to analysing the results of the trial and hope that the treatment will benefit patients.”

From a baby, it was clear that things were not right with Jack, as he had trouble breathing, suffered bowel problems and would only sleep for up to two hours a night. The tot’s liver and spleen were also enlarged.

The Sunningdale School pupil was admitted to Sunderland Royal Hospital for blood and urine tests, X-rays and an ECG.

The results of his examinations were sent to experts at Royal Manchester Children’s Hospital who quickly confirmed his heartbreaking diagnosis, when he was just 16 months old.

Only one in 85,000 live births are affected by the devastating condition and every year 10 children are diagnosed with Sanfilippo disease in the UK.

Although the condition is genetic, Gemma’s eldest son, Lewis, does not have the illness.

Sanfilippo disease – which is also known as Mucopolysaccharidoses Type III – is a metabolism disorder passed down through families.

It makes the body unable to properly break down long chains of sugar molecules. There are four different forms of the illness and Jack has the most severe kind.

Due to the disease, his mental development is impaired and his language skills and understanding are not the same standard as other children his age. He is also unsteady on his feet.

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