Spanish researchers work on potential cure for Parkinson's using gene-repair therapy

A MEDICAL research foundation based in Galicia has set itself the ambitious goal of creating a cure for Parkinson's Disease at 10% of the cost of similar therapies under development in the USA and about a third of the sum involved in another in the UK.

Alberto Amil, 49, is one of around 160,000 people in Spain diagnosed with Parkinson's, one of the seven million or so on the planet – about one in every 1,000 of the earth's inhabitants – and the only known case in the world of a person with Parkinson's and Amyotrophic Lateral Sclerosis (ALS), otherwise known as motor neurone disease.

He and two doctors set up the Curemos el Párkinson ('Let's Cure Parkinson's') Foundation in a bid to find a way of reversing the condition using gene repair therapy.

The married father of three says: “My TBK1 gene is affected – a gene that tends to cause ALS or dementia more than Parkinson's, but which, in my case, gave me both, although the ALS comes on more slowly.”

His first symptoms came on about a decade ago – his left hand started trembling slightly – but for a long while, he was able to live a 'more or less normal life'.

Alberto, a dynamic young businessman, had set up a string of national and international companies and was on 14 boards of directors – but five years ago, his symptoms started to become more life-limiting.

“I sold my companies, because at the time, I was scared I wouldn't be able to run them properly,” he explains.

He went from walking with a stick to needing a walking frame and then, by the beginning of 2020, to using a wheelchair – just months after his ALS diagnosis came on top of his existing one of Parkinson's.

Alberto had joined up with the neurologist who had diagnosed his first condition, Dr Diego Santos, in a research project involving over 600 patients, 140 of his colleagues and 40 Spanish hospitals.

“But it was only about how to improve our quality of life, not to cure us,” says Alberto.

Now chairman of the Foundation which proclaims, in its name, to be determined to do the latter – and with other genetic and neuro-degenerative conditions – Alberto said he 'came across' the idea of gene-repair therapy about nine month ago.

“We spoke to some researchers in the USA, who said they were able to regenerate a human gene, but it would take seven years and cost over US$2 million,” says the A Coruña-born entrepreneur.

“Another geneticist in London said five to seven years and about half a million pounds sterling.

“But people with conditions such as these, time isn't something we have a surplus of, exactly.”

Launching a grant at national level, which was finally taken up by Madrid's 12 de Octubre Hospital, the Foundation, of which Dr Santos is deputy chairman, is funding a team of scientists led by genetics expert Dr Eva Carro.

They are working on reconstructing the TBK1 gene within one year and at a cost of €200,000.

“We're really enthusiastic about this, because as well as the Foundation's aim of curing Parkinson's, we want to continue in our work and find cures for other neuro-degenerative conditions,” Alberto says.

Clinical trials are already on the horizon, meaning the treatment is more than just a pipe-dream.

“Gene-repair therapy in animals is already a reality; now they're going to try it on humans,” reveals Alberto, who has volunteered – the first person to do so – to be a candidate for trials.

It is hoped these will get under way by the beginning of 2022.

At the same time, the Foundation and medical team are working on a parallel line of research on reversing neurological damage through stem-cells.

The Foundation has set up a donation page, and the public can become members by paying an annual subscription, which will help fund the research.

“Don't think it can't happen to you,” warns Alberto.

“But we're going to be able to cure ourselves thanks to genetic therapy.

“This will offer hope of being able to live, and being able to see your loved ones live.”

What is Parkinson's?

A neuro-degenerative condition, Parkinson's is caused by the destruction of neurons that transmit dopamine, a form of 'happy hormone'. This description is highly-simplified, but it is a brain chemical, or neurotransmitter, thought to be linked to a number of psychological and psychiatric conditions, either through over-firing or under-firing, such as depression, dementia and attention-deficit disorder without hyperactivity in the case of the latter, or hyperactivity, psychosis and schizophrenia in the case of the former, among other factors involved in all of these.

Symptoms of Parkinson's typically involve trembling, rigidity, slowness of movement and postural instability, although sometimes bring cognitive disorders – like short-term memory loss, inability to concentrate, loss of spatial ability, and others that overlap with the type of cognitive decline seen in Alzheimer's.

It can even cause stomach and digestive disorders, sleep disorders and physical sensitivity issues, and can lead to stammering or other speech impediment over time.

This said, up to four in 10 people with Parkinson's do not have tremors, many do not have speech disorders, and in another four in 10 or so, the first symptom of the condition is depression.