A Hampshire mum has become the first person in the UK to receive a pioneering new treatment for a debilitating and fatal neurological disease that researchers from University Hospital Southampton (UHS) hope will be ‘life-changing’ for thousands of patients in the future.
Progressive Supranuclear Palsy (PSP) is a rare and incurable condition that affects around 3,000 people in the UK. It causes damage to the brain stem, the part of the brain controlling balance, movement, vision, speech and swallowing.
Now, as part of a major international study led by University Hospital Southampton, Maggie Walsh, 65, from Southampton, has become the first UK patient to receive the treatment which is hoped could prove a ‘gamechanger’ in targeting the root cause of the condition.
PSP is usually diagnosed around the age of 60 and life expectancy is approximately six years from that point. The condition typically leads to falls and loss of mobility and as it develops, the patient can suffer restricted eye movement, distorted speech and swallowing food safely becomes impossible.
Like many other neurological conditions, it is driven by changes to the tau protein – which is essential to the structure and functioning of nerve cells. In PSP, this altered tau forms tangles and clumps that disrupt and damage those nerve cells.
Proteins like tau are produced by our cells from our DNA, via a molecule called RNA. The new treatment being trialled in Southampton uses small pieces of RNA to block this. These match sections of the tau RNA, sticking to them and preventing translation of the RNA into protein.
The study, led by Dr Boyd Ghosh, consultant neurologist at University Hospital Southampton, will bring fresh hope to sufferers of the fatal disease. If successful, it would prove to be the first treatment targeting the root cause of the condition which could slow its effects, giving patients more time and a better quality of life.
Maggie, a mum-of-two and grandmother-of-three, was diagnosed with PSP in October 2018. Cruelly, she spotted the symptoms that she recognised from her own father who died from PSP – even though the condition is not genetic.
Maggie’s husband Bob, 67, told how his wife was diagnosed despite there currently being no diagnostic test. The symptoms can be similar to other neurological diseases like Parkinson’s, but Maggie was struggling with eye movements which helped doctors define she had PSP.
Bob said: “It’s a very debilitating condition and I have watched Maggie deteriorate over time. Often the symptoms are not visible from Maggie’s point of view, so I have to ask her about things as I notice them.
“She regularly suffers falls, can speak very quietly and now struggles to look down. We rely on a wheelchair sometimes, but I make sure Maggie gets her half an hour of exercise every day when I take her for a walk.
“It’s very difficult to see this happen. That’s why this research is so important to us – it may not be in time to help Maggie but if it can help others in the future then that’s what is important to us.”
The treatment involves a series of injections into the spinal fluid – one every month for four months.
Since build-up of tau is a feature of many neurological conditions including Alzheimer's disease, the treatment may also be trialled in the future to see if it might help patients affected by other conditions.
A further three patients are set to receive the new treatment in Southampton – the first centre to open in the UK - in coming months. They will each be followed closely for 12 months.
Dr Ghosh, who is based at UHS where approximately 120 patients with PSP from across the south of England are currently treated, said it could be ‘life-changing’ for patients.
He said: “As of now there’s no cure. These patients are facing relentless progression of their disease. This new treatment has the potential to give them back more of their life, and more time with their families and friends.”
Posted on Tuesday 21 September 2021