People diagnosed with a life-threatening cardiac condition have been given new hope thanks to a ground-breaking new drug which protects the heart, developed by researchers from the Royal Free Hospital and UCL.

A new study, published in The New England Journal of Medicine, shows patients with transthyretin amyloid cardiomyopathy, (ATTR-CM), now the most commonly diagnosed form of amyloidosis, benefitted significantly when they took the drug Acoramidis. Left untreated, clumps of protein build up on the heart preventing it from working properly, ultimately leading to heart failure and death within three to six years.

Stephen Neil, 71, who was diagnosed with ATTR-CM in 2019, was one of more than 600 people who took part in the global study led by Professor Julian Gillmore at the National Amyloidosis Centre (NAC), based at the Royal Free Hospital.

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Stephen, a former Royal Navy diver, said: “I count myself lucky. Firstly, that I was diagnosed and referred so quickly to the National Amyloidosis Centre and then that I was deemed a suitable candidate to be put straight on the trial.”

Although Stephen doesn’t know whether he was given the drug or a placebo during his time on the 30-month trial, as it was a ‘double-blind’ trial, once the trial had finished all participants were offered the opportunity to take the drug, as the results for patients who had been taking the drug, rather than the placebo, displayed clear benefits. 

Stephen, who lives in Portsmouth with his wife Pauline, said tests taken for an unrelated operation at his local hospital had revealed he had atrial fibrillation – an irregular heart rhythm. A cardiologist sent him for an MRI scan, diagnosed him with ATTR-CM and referred him to the NAC where his diagnosis was confirmed and he was offered a place on the Acoramidis trial. The drug works by stabilising the transthyretin protein to stop it falling apart, thereby preventing amyloid formation. Patients enrolled in the trial simply had to take two tablets in the morning and two in the evening.

UCL’s Professor Julian Gillmore, research lead at the NAC and primary investigator of the global trial, said: “The results from the study are exciting for patients and researchers as we now have a further effective treatment option for ATTR-CM. In every measure patients receiving Acoramidis did significantly better than those on the placebo, from a reduction in mortality and cardiovascular hospitalisations to improved physical functioning as measured by a walking test. We are hoping that this drug will become widely available to patients with ATTR-CM by the end of 2024.”

Professor Gillmore added: “ATTR-CM used to be thought of as a rare cause of heart failure but the number of people being diagnosed as well as those being diagnosed early in the disease course has dramatically increased, largely due to improvements in imaging which themselves were developed at the National Amyloidosis Centre.’’

“These are beautiful data because all of the treatments for amyloidosis have been shown to work better if patients are treated earlier in the course of the disease and we will finally have an effective treatment to offer UK patients with ATTR-CM. In the vast majority of patients receiving Acoramidis within the trial we saw disease improvement or stability as a result of treatment with the drug.”

Stephen added: “In 2023 my wife Pauline and I went to Italy and Venice and Devon and Cornwall. I can now look forward to a future with more cycling, further travelling and time to enjoy with my family. I want to thank the NAC team for their unwavering professionalism and support. Even through COVID they managed to keep my continuity of care going, ensuring I got the medication delivered, overcoming any obstacles. They were organised beyond belief.”