UK scientists have developed a new stem cell therapy that could, in the best case scenario, offer a "largely curative" treatment for the deadly genetic brain disease Sanfilippo, as well as a new platform for other neurodegenerative conditions such as Alzheimer's disease.

A team at Manchester University have used a gene therapy vector to treat Sanfilippo in mice for the first time, and hope to be testing the treatment in humans within two years.

Sanfilippo currently affects one in 89,000 children in the UK, with patients usually dying in their mid-twenties. The condition, which is currently untreatable, is caused by the lack of SGSH enzyme in the body, which helps to breakdown and recycle long chain sugars. 

Sufferers build up and store these sugars in excess throughout their body from birth and this has a detrimental affect on the brain, resulting in progressive dementia and hyperactivity and ultimately losing the ability to walk and swallow.

Speaking to PharmaTimes, researcher Dr Brian Bigger noted that his team has developed another treatment for Sanfilippo disease based on the substrate reduction therapy drug genistein aglycone, that will be in clinical trials later this year. However this is likely to delay disease onset rather than offer a curative treatment.

On the other hand, their newly-developed new stem cell therapy could offer "a significant correction of the brain disease that children suffer from, and some children may lead more normal lives," he said, noting that, "in the best case scenario it may be largely curative".

A similar approach was tested by an Italian research group in patients with metachromatic leukodystophy, and was found to allow some patients to walk and run where the normal disease course would have had them wheelchair bound by this stage. "We refined their gene therapy vector to make it more effective in the brain," Bigger told PT.

Other applications?

Aside from its promise in Sanfilippo, researchers are excited by the treatment's other potential applications, particularly in difficult to treat neurodegenerative conditions like Alzheimer's.

The gene therapy vector is designed to improve brain expression of missing genes in specific inherited neurological diseases, but also allows rapid exchange of new therapeutic genes. 

Therefore, the technology could be used to deliver any gene to the monocyte cells that traffic into the brain and into all organs of the body via the blood stream, "and thus with the identification of appropriate targets, and suitable refinement of the delivery protocol, could be used to treat a range of more complex genetic diseases or potentially later onset neurodegenerative diseases such as Alzheimer disease," Bigger said.

The team is currently seeking partners to develop the therapy throughout clinical trials.