A fatal untreatable genetic brain disease in children has for the first time been treated using stem cell gene therapy by Manchester University scientists.
The inherited condition called Sanfilippo is a disease that affects one in 89,000 children in the UK which causes progressive dementia in children, with sufferers usually dying in their mid-twenties.
It can lead to difficulties in breaking down and recycling long chain sugars, such as heparan sulphate.
Diagnosed children will build up and store excess heparan sulphate throughout their body from birth, affecting their brain and resulting in progressive dementia, hyperactivity, and an inability to walk or swallow.
Dr Brian Bigger, from the University of Manchester’s Institute of Human Development who led the research, said: “Bone marrow transplants had been used to correct similar HS storage diseases, such as Hurler syndrome, by transplanting normal cells with the missing enzyme but the technique did not work with Sanfilippo disease.
“This is because monocytes, a type of white blood cell, from the bone marrow, did not produce enough enzyme to correct the levels in the brain.
“This is extremely exciting and could have huge implications for treatments. We now hope to work to a clinical trial in Manchester in 2015.
“This approach has the potential to treat several neurological genetic diseases.”
Scientists are hoping to construct a vector, a tool normally used by molecular biologists to distribute genetic material into cells , which will be used a clinical trial with patients at Central Manchester University Hospital NHS Foundation Trust by 2015.
Historically, this stem cell gene therapy method was demonstrated by Italian scientists to improve conditions in patients with another similar genetic disease affecting the brain called metachromatic leukodystrophy, but Manchester scientists have refined this model.
The study will be published this month in the journal Molecular Therapy and could also be applied to other neurological, genetic diseases.
Christine Lavery MBE, chief executive of The Society for Mucopolysaccharide Diseases Society, said: “Since 1970 over 130 children and young adults have lost their lives to Sanfilippo disease in the UK alone.
“While new therapies for other diseases are changing children’s lives, parents of children with Sanfilippo disease can do no more than give the best possible care and live in hope that a treatment is around the corner.
“The positive results of Dr Brian Bigger’s gene therapy programme in mice provides optimism for future generations of Sanfilippo children.”
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