Gene therapy may have saved hands of top British surgeon
A PIONEERING gene-silencing drug may have saved the career of a top British surgeon with a rare hereditary disease that threatened to rob him of the use of his hands.
Carlos Heras-Palou expected his job as an orthopaedic specialist to end in just six months as the illness progressed and destroyed the nerves in his hands, rendering them useless. But events took a dramatic turn after he joined an international trial and underwent 18 months of treatment with the drug, patisiran.
Not only has the relentless march of the often fatal condition been halted, it also appears to have gone into reverse.
Freed from the destructive effects of the illness, Mr HerasPalou’s peripheral nerves have started to recover and heal. Patisiran is the first treatment of its type in the world to be approved for use in patients.
After getting the green light from the Food and Drugs Administration (FDA) in the US, it has now been licensed by European and UK regulators.
The cutting-edge drug employs a principle known as RNA interference to block the activity of a rogue gene.
It targets a gene in the liver responsible for the very rare but devastating disease hereditary transthyretinmediated amyloidosis (hATTR amyloidosis).
The disease, which can be inherited from either parent, causes sticky amyloid protein to build up in organs and around nerves, affecting vital functions such as limb movement, swallowing, vision and heartbeat. It also triggers chronic burning neuropathic pain.
Only about 100 people in the UK are thought to suffer from the disorder, which in some patients can shorten life expectancy to no more than five to seven years.
In a cruelly ironic twist, Mr Heras-Palou, 53, works as a hand surgeon in a specialist unit at the Royal Derby Hospital, knitting together delicate bones, tendons and nerves damaged by injury or disease.
After 20 years as a consultant, he is one of the leaders in his highly niche field.
He said: “My whole career depends on my hands and having a good hand function. Luckily I was diagnosed early and had mild symptoms, pins and needles and intermittent numbness. I’ve also had a lot of pain, problems eating and low blood pressure.
“Without this treatment the disease would have progressed and that would have been the end of my career.”
Spanish-born Mr Heras-Palou was one of only two UK patients taking part in the Apollo Phase III trial of the drug.