New stem cell gene therapy gives hope to prevent Sanfilippo - an inherited neurological disease

Main Category: Neurology / Neuroscience
Also Included In: Stem Cell Research;  Genetics
Article Date: 25 Jul 2013 - 1:00 PDT Current ratings for:
New stem cell gene therapy gives hope to prevent Sanfilippo - an inherited neurological disease

Scientists from The University of Manchester have used stem cell gene therapy to treat a fatal genetic brain disease in mice for the first time.

The method was used to treat Sanfilippo - a fatal inherited condition which causes progressive dementia in children - but could also benefit several neurological, genetic diseases.

Researchers behind the study, published in the journal Molecular Therapy this month, are now hoping to bring a treatment to trial in patients within two years.

Sanfilippo, a currently untreatable mucopolysaccharide (MPS) disease, affects one in 89,000 children in the United Kingdom, with sufferers usually dying in their mid-twenties. It is caused by the lack of SGSH enzyme in the body which helps to breakdown and recycle long chain sugars, such as heparan sulphate (HS). Children with the condition build up and store excess HS throughout their body from birth which affects their brain and results in progressive dementia and hyperactivity, followed by losing the ability to walk and 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.

Dr Bigger said: "To increase SGSH enzyme from bone marrow transplants, and to target it to the cells that traffic into the brain, we have developed a stem cell gene therapy which overproduces the SGSH enzyme specifically in bone marrow white blood cells.

"We have shown that mice treated by this method produce five times the normal SGSH enzyme levels in the bone marrow and 11 per cent more compared to normal levels in the brain.

"The enzyme is taken up by affected brain cells and is enough to correct brain HS storage and neuro inflammation to near normal levels and completely corrects the hyperactive behaviour in mice with Sanfilippo.

"This is extremely exciting and could have huge implications for treatments. We now hope to work to a clinical trial in Manchester in 2015."

The University of Manchester team is now manufacturing a vector - a tool commonly used by molecular biologists to deliver genetic material into cells - for use in humans and hope to use this in a clinical trial with patients at Central Manchester University Hospital NHS Foundation Trust by 2015.

The stem cell gene therapy approach was recently shown by Italian scientists to improve conditions in patients with a similar genetic disease affecting the brain called metachromatic leukodystrophy, with results published in the journal Science earlier this month.

Manchester scientists refined the vector used by the Italian scientists. "This approach has the potential to treat several neurological genetic diseases," Dr Bigger added.

The research was funded by the UK MPS Society and the Sanfilippo Children's Research Foundation based in Canada.

Christine Lavery MBE, Chief Executive of the UK MPS Society, said: "Since 1970 over 130 children and young adults have lost their lives to Sanfilippo disease (MPS III) in the UK alone.

"Whilst new therapies for other MPS 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."

Article adapted by Medical News Today from original press release. Click 'references' tab above for source.
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The research is published in the journal Molecular Therapy this month.

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A day in the life of ... a neurological care home unit manager

Herold Pink believes it is vital to get to know all the residents and always makes time to talk to them. Photograph: Herold Pink

I'm awake at 6am and grab a coffee before jumping in the shower. It's too early for breakfast, but there are usually some biscuits when I get to the office.

I iron my tunic and then brace myself for the 40-minute drive through rural Lincolnshire to the Eagle Wood neurological care centre in Peterborough. It's usually fine, but if I get stuck behind a combine harvester it can get the day off to a bad start.

I clock in before 8am, and make my way to the unit I manage, which cares for people requiring neuro-rehabilitation. Whoever has been on duty will tell me if there are any matters to deal with.

I make sure we have the right staffing levels for the day, check my emails and spend time walking round the unit on my own. It's vital to get to know all the residents – I always make time to talk to them.

One of my main tasks is to assess patients who have been referred to one of the five units at Eagle Wood. Earlier today I set off to Norfolk for an assessment on a man in hospital with young-onset Alzheimer's and, as is often the case, it presents its own challenges.

The aim of such an assessment is to understand a patient's circumstances, and find out how we can meet their needs at Eagle Wood. When I arrived at the hospital, the nurse assigned to me had only been working there for a day or two and didn't know the patient at all. I was left scratching my head.

I managed to piece things together by talking to some of the clinical team, but still felt short on detail. Fortunately, the patient's wife arrived and was able to help out with background information such as dietary requirements, toilet arrangements, family history, as well as small but important details such as how many sugars her husband takes in his tea.

Although I now work for PJ Care, an independent provider to the NHS, I have worked in the NHS and I know the pressure the nurses are under. But these kinds of unnecessary lapses can make it tough for the patient and their family.

I carry out assessments all over the country. I was recently in Putney, south London, and then Sheffield. Assessments can be in hospitals, at people's homes or care centres. When I'm away we have experienced staff looking after the unit, and I'm always on call if I'm needed.

When I return to the office I just have time for a sandwich before compiling my care report.

All residents have different needs, from specialist equipment like a hoist to a particular pressure-relieving mattress. Some have particularly challenging behaviour, such as aggression, that we need to take into account.

When I've completed my report, it goes to our head office in Milton Keynes where the finance team work out costings and forward a recommendation to commissioners.

Other matters on my agenda include checking a resident's medication, helping with training and supervision, and reviews of treatment and behaviour. At the end of the day I finish up by making sure staff rotas are up to date. I set out for home at around 6pm.

I've always wanted a career in healthcare. I initially wanted to be a doctor, but as an 18-year-old, spending eight more years in training and education just wasn't very appealing. I chose nursing instead. I qualified in 1988, have worked as a registered nurse in the NHS, spent a year working in Toronto, and have been managing care homes since 1997.

My work can be incredibly rewarding. We had one bed-bound gentleman brought in with a serious brain injury. He wasn't even able to sit up or speak. He had extensive physiotherapy, massage, psychological therapy and emotional support. Eventually we made a breakthrough and he was able to sit.

Then a little later, he began to talk. No-one ever expected it. It was the most amazing thing.

You know you're in the right job when you can witness something like this happen.

Herold Pink is unit manager at the Eagle Wood neurological care centre in Peterborough, run by PJ Care

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