New research shows promising results for a stem cell gene therapy for treatment of Sanfilippo syndrome type B, also known as mucopolysaccharidosis IIIB.
The condition, one of four types of the syndrome, affects about one in 200,000 live births in the UK and has no known treatment. Haematopoietic stem cell transplant has been shown previously to be effective in the related disease mucopolysaccharidosis I, however the same method is ineffective in Sanfilippo syndrome type B.
The study successfully used an ex vivo haematopoietic stem cell gene therapy approach in a mouse model of syndrome.
The researchers say the findings, reported in Brain, suggest there will be "neurological benefits" from the treatment.
A gene therapy is already ready for testing for type A of the syndrome, also known as mucopolysaccharidosis III.
Researcher Professor Brian Bigger, from Manchester University, UK, said: “We are very hopeful that this will be transformative for patients, and that this technology will change the lives of children with Sanfilippo Type A and Type B.
"As it stands the disease is incurable and people with Sanfilippo syndrome normally live until adolescence or early adulthood after suffering for many years.
"Children with Sanfilippo begin showing symptoms of hyperactivity, severe behavioural problems and miss development milestones as toddlers. Later they show symptoms similar to dementia with most never achieving a developmental age beyond two years.”
Source: Macrophage enzyme and reduced inflammation drive brain correction of mucopolysaccharidosis IIIB by stem cell gene therapy Brain 27 November 2017
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