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Sanfilippo type B: developing a new treatment for this rare and devastating disease

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What did the project achieve?

“Our laboratory results show that our new gene therapy could be an effective new treatment for children with Sanfilippo type B,” says Professor Brian Bigger of the University of Manchester. “In fact, it looks so encouraging that we are aiming to take it into a clinical trial within the next two to three years.”

Sanfilippo type B – also called mucopolysaccharidosis IIIB – is a rare illness caused by faults in a single gene, with devastating consequences. Children develop normally until they are around two years old but then experience a wide range of serious behavioural problems and physical disabilities that get worse over time. Sadly, there is no cure – and many young people with this condition will not survive beyond their teens.

“We have now carried out extensive laboratory tests on our new gene therapy that aims to treat and correct severe progressive brain damage in children with Sanfilippo type B – and our results look very promising,” says Professor Bigger.

“There are currently no effective treatments that can reach the brain, where the disease symptoms are most severe,” Professor Bigger says. “We hope our new treatment will help to slow down, or stop, neurodegeneration in children before they experience any symptoms – as well as potentially helping older children too.”

“If our promising results are confirmed in clinical trials, this treatment could dramatically improve the lives of children and their families, providing new hope for this devastating disease,” he adds.

This research was completed on

Sanfilippo type B is a rare illness that starts to cause problems when children are just two, three or four years old. At first, children may simply seem naughty or hyperactive. Sadly though, they go on to experience a gradual but relentless deterioration in their mental and physical abilities, with few living beyond their teenage years. There is no cure. Dr Brian Bigger, of the University of Manchester is developing a new treatment in the hope of improving the lives of both children and their families.

How are children’s lives affected now?

Children with Sanfilippo type B usually develop normally for the first year or two of their lives. Sadly, though, in the years that follow, the children’s condition deteriorates in a devastating way.

“Children with Sanfilippo type B develop severe behavioural problems,” explains Dr Bigger. “They lose their sense of danger, and become hyperactive and inattentive. They lose their language skills and have severe learning disabilities. Sleep patterns also tend to be disrupted.”

Over the course of several years, the children’s behavioural problems are slowly replaced by physical disabilities. These get worse over time, with children needing to use a wheelchair and becoming entirely dependent on their parents and carers.

“Parents are vital in children’s lives, with their love and care being extremely important,” explains Dr Bigger. “But it can be hard for parents to deal with things like the lack of sleep, their child’s behavioural problems and difficulties in communicating. New treatments are desperately needed.”

How could this research help?

“We are in the laboratory stages of developing a new treatment for Sanfilippo type B, which is also called mucopolysaccharidosis IIIB,” explains Dr Bigger.

Children with this disease have faults – or mutations – in a particular gene. The new treatment aims to overcome these faults by delivering a healthy copy of the gene to the body. This type of treatment is called gene therapy.

For the children the new treatment will involve having a bone marrow transplant. The plan is to take cells from the children’s own bone marrow, modify those cells using gene therapy, and transplant them back into the children’s body.

“Sanfilippo brings with it such a wide range of devastating problems that any improvement in the children’s condition would be beneficial,” says Dr Bigger. “But we are hoping the new treatment will one day make a significant difference to the lives of children and their families.”

Project LeaderDr B Bigger
Project LocationStem Cell and Neurotherapies group, Institute of Human Development, University of Manchester
Project duration3 years
Date awarded14 August 2013
Project start date1 May 2014
Project end date31 October 2017
Grant amount£181,633
Grant codeGN2183


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