Gene therapy helps a woman to write
A British woman stricken with Parkinson’s disease can write for the first time in 15 years after receiving gene therapy.
Sheila Roy is one of only 15 people worldwide to undergo the radical treatment, which involves inserting corrective genes into the brain.
Diagnosed with Parkinson’s in her 40s, she has struggled with the disease for 17 years.
The symptoms include severe tremors and loss of balance, making simple tasks such as writing impossible.
Doctors at Addenbrooke’s Hospital in Cambridge injected a modified virus carrying the genes directly into the motor centre of her brain.
The genes provide the coded instructions for proteins needed to make dopamine, a brain chemical essential for proper control of movement. Lack of dopamine leads to the symptoms of tremor, stiffness and poor balance associated with Parkinson’s.
Ms Roy is taking part in an early-stage study of the ProSavin therapy developed by Oxford BioMedica focusing mainly on dosing and safety.
Unlike conventional tablets, the therapy involves just one treatment that does not have to be repeated.
Ms Roy, from Bedfordshire, says she is now starting to see “a glimmer” of the person she was before her illness.
Describing her experiences, she said: “Early in 2011 I was rapidly deteriorating. My medication was being less effective, there was increased involuntary movement, where I frequently hit myself but also other people, and had a four second switch from extreme movement to being off’ and very still. This lasted for some time, up to two hours and more and I could do nothing.
“These unpredictable shifts were like a Jekyll and Hyde transition and outside of my control. At night there was no relief as I had terrible nightmares and often woke my husband up with screaming or punching him.
“Parkinson’s disease changes the ability and capability of the individual affected. You lose confidence, dignity and hope. The ProSavin experience has restored my confidence, enabled better motor function and has given me hope. I can function more normally and, for the first time in 15 years, I can write.”
The trial is being conducted internationally in two centres – Addenbrooke’s Hospital and the Henri Mondor Hospital in Paris, France.
Philip Buttery, from the Cambridge Centre for Brain Repair, who is leading the British arm, said although the research was still at an early stage, the treatment appeared to be having positive results.
“It seems to be having an overall beneficial effect in smoothing out people’s days, probably allowing a slight dose reduction in medication, and in some patients a better sleep pattern and a better quality of life for all,” he said.
More studies involving hundreds of patients will be needed to confirm that the therapy is safe and effective.
It could be five years or more before the treatment becomes widely available, say the scientists.
The Phase I/II trial involves patients with mid-stage Parkinson’s who are no longer responding so well to conventional oral treatments.
Ms Roy and five other patients in the UK received a high dose “enhanced” treatment. Over a period of three months, those patients assessed have shown an average 29 per cent improvement in motor function.
A six-month assessment of one of the three other arms, with a lower dosage, has shown an average improvement of 43 per cent and a maximum of 61 per cent.
Worldwide, 4.1 million people are affected by Parkinson’s, a number that is expected to more than double by 2030.
Kieran Breen, director of research at the charity Parkinson’s UK, said: “Gene therapies hold great promise for people with Parkinson’s in the future, as they could mean an end to the daily regime of drugs that most people with the condition currently face.
“In addition to ProSavin, there are three other gene therapy trials at the moment. So far all the therapies appear to be safe – now the challenge is to see whether they are more effective than the medications we already have for Parkinson’s.”
So, what exactly is Parkinson’s disease?
• Parkinson’s disease is a degenerative neurologic disease. It is also a chronic, progressive neurologic disease. It does not go away and it gradually gets worse.
• The disease is named after the English physician James Parkinson, who first described the illness. Another name for this illness is paralysis agitans, which is simply the Latin translation of “shaking palsy”.
• In Parkinson’s disease, neurons (nerve cells) of the brain area known as the substantia nigra (Latin for “black substance”) are primarily affected. When neurons in the substantia nigra degenerate, the brain’s ability to generate body movements is disrupted and this disruption produces signs and symptoms characteristic of Parkinson’s disease: tremor, rigidity, akinesia (lack of movement or loss of spontaneous movement), bradykinesia (slowness of movement) and problems with walking and posture.