Leading British surgeon claims a gene-silencing drug has saved his career

Carlos Heras-Palou has worked as an orthopaedic surgeon for 20 years

A leading British surgeon whose hands were going to be rendered useless claims a pioneering gene-silencing drug has saved his career.

Carlos Heras-Palou has knitted together delicate bones, tendons and nerves during a glittering 20-year career as an orthopaedic surgeon.

But a rare hereditary condition that was destroying nerves in his hands threatened to end his career within the next six months.  

In a desperate attempt to salvage his job, the 53-year-old who works at a specialist unit at the Royal Derby Hospital signed up to an 18 month trial. 

And now, not only has the relentless march of the often fatal condition been halted by paritisan, it also appears to have gone into reverse. And he claims his peripheral nerves have started to recover and heal.

Mr Heras-Palou, considered one of the leaders in his highly niche field after 20 years as a consultant, has praised the drug, branded a ‘silver bullet’. 

Speaking for the first time about his recovery, he said: ‘The treatment has saved my career, and my life.

‘I’m left with some numbness in my feet and weakness, and I still can’t run, but I can walk. I’m functioning very well.

‘I haven’t got the pain and can eat normally so I’m not losing weight. I can sleep at night. I’ve been given hope and I’m seeing life in a different way.

‘It is a ground-breaking advance, and it’s so selective there are practically no side-effects. It’s like the proverbial silver bullet.’  

Mr Heras-Palou added: ‘My whole career depends on my hands and having a good hand function. 

‘Without this treatment the disease would have progressed and that would have been the end of my career.

He suffers from a rare hereditary condition that was destroying nerves in his hands that threatened to end his career within the next six months

He suffers from a rare hereditary condition that was destroying nerves in his hands that threatened to end his career within the next six months

In a desperate attempt to salvage his job, the 53-year-old signed up to an 18 month trial. And now, not only has the relentless march of the often fatal condition been halted by paritisan (pictured), it also appears to have gone into reverse

In a desperate attempt to salvage his job, the 53-year-old signed up to an 18 month trial. And now, not only has the relentless march of the often fatal condition been halted by paritisan (pictured), it also appears to have gone into reverse

‘Typically your legs get very weak and you lose the ability to walk. Your hands stop working – you can’t grip or pinch or control what you’re doing.

‘I’m very well known in my field and have been practising a long time so my patients were perfectly safe. But in another six months my career would have been finished.’ 

Patisiran, made by the US company Alnylam, is the first treatment of its type in the world to be approved for use in patients with hATTR amyloidosis.

It has now been licensed by European and UK regulators after being given the green light by the Food and Drugs Administration in the US. 

The cutting-edge drug, branded as Onpattro, employs a principle known as RNA interference to block activity of a rogue gene.

It targets a gene in the liver responsible that is for hereditary transthyretin-mediated (hATTR) amyloidosis, which strikes 100 people in the UK.

The rare disease, which can be inherited from either parent, causes sticky amyloid protein to build up in organs and around nerves.

This affects vital functions such as limb movement, swallowing, vision and heartbeat. It also triggers chronic burning neuropathic pain.

In a handful of patients, hATTR amyloidosis can shorten life expectancy to no more than five to seven years.

Mr Heras-Palou was one of only two UK patients taking part in the Apollo Phase III trial, which recruited 225 sufferers from 19 countries.

Mr Heras-Palou was one of only two UK patients taking part in the Apollo Phase III trial, which recruited 225 sufferers from 19 countries

Mr Heras-Palou was one of only two UK patients taking part in the Apollo Phase III trial, which recruited 225 sufferers from 19 countries

After a few months of therapy, the Spanish-born surgeon noticed that he felt better. Gradually the almost constant pain disappeared, and the prickly sensations in his hands began to fade. He could once again walk without difficulty

After a few months of therapy, the Spanish-born surgeon noticed that he felt better. Gradually the almost constant pain disappeared, and the prickly sensations in his hands began to fade. He could once again walk without difficulty

WHAT IS PATISIRAN? 

Patisiran, made by the US company Alnylam, is the first treatment of its type in the world to be approved for use in patients with hATTR amyloidosis.

It has now been licensed by European and UK regulators after being given the green light by the Food and Drugs Administration in the US. 

The cutting-edge drug, branded as Onpattro, employs a principle known as RNA interference to block activity of a rogue gene.

It targets a gene in the liver responsible that is for hereditary transthyretin-mediated (hATTR) amyloidosis, which strikes 100 people in the UK.

The rare disease, which can be inherited from either parent, causes sticky amyloid protein to build up in organs and around nerves.

This affects vital functions such as limb movement, swallowing, vision and heartbeat. It also triggers chronic burning neuropathic pain.

In a handful of patients, hATTR amyloidosis can shorten life expectancy to no more than five to seven years.

During the trial he had patisiran infused into his bloodstream every three weeks at the National Amyloidosis Centre, based at London’s Royal Free Hospital.

After a few months of therapy, the Spanish-born surgeon noticed that he felt better.

Gradually the almost constant pain disappeared, and the prickly sensations in his hands began to fade. He could once again walk without difficulty. 

Over the course of the trial 148 patients were treated with patisiran and 77 with a dummy placebo.

A report on the research, published in the New England Journal of Medicine, said disease progression was ‘halted or reversed’ in patients who received the drug.

As a trial participant, Mr Heras-Palou has been allowed to continue the very costly treatment, currently priced at around $400,000 (£308,618) per patient per year.

His sister, Isabel, who also suffers from the disease, was put on the drug as part of an earlier trial and is still improving.

Their mother, Catalina, another victim of hATTR amyloidosis, died four years ago from complications related to the disease.

Professor Philip Hawkins, director of the National Amyloidosis Centre, who was one of the trial scientists, praised the drug.

He said: ‘I was surprised that there was improvement in nerve function over the course of this 18-month study. 

‘It was wonderfully encouraging. I think this is a really important drug.’

Patisiran is now under review by the National Institute for Health and Care Excellence (Nice), the body that approves or rejects new treatments on the NHS in England.

Final Nice guidance on the drug is expected next year.

Read more at DailyMail.co.uk