For years, Daniel Cullinane suffered with chest pain that doctors repeatedly dismissed.
Despite being taken to hospital every couple of months with the excruciating symptom, he was told it was simply anxiety.
Eventually, after multiple visits, scans revealed the truth: Daniel, then in his late 30s, was suffering from coronary artery disease – when fatty deposits build up inside the heart’s artery walls, eventually starving the muscle of oxygen.
The chest pain he was experiencing was a symptom of this – angina. Worse still, as he was suffering with it even when resting, it was a warning sign that he was at high risk of a heart attack.
Given that he was a keen runner who enjoyed hiking and followed a healthy diet, the news came as a shock. But he took it seriously, having lost his father at the age of 62 to a heart attack.
Blood tests also revealed his cholesterol was sky-high – and this, no doubt, was a major factor in the build-up inside his heart arteries.
Initially he was prescribed statins. But when they failed to bring down his levels, he was referred to a specialist heart clinic at Barts Hospital in London.
‘I felt like I was being blamed by the doctors,’ says Daniel, now 41, from London. ‘Either suggesting that I wasn’t taking my tablets or not being healthy, and that was the reason my cholesterol wasn’t coming down – but this wasn’t true.’
There, genetic checks flagged the cause: Daniel was one of the 250,000 Britons with familial hypercholesterolaemia, an inherited condition that causes extremely high cholesterol almost from birth.
Daniel Cullinane is one of 250,000 Britons with familial hypercholesterolaemia, an inherited condition that causes extremely high cholesterol almost from birth
The VERVE-102 treatment he has received has brought his cholesterol levels to well within the healthy range
‘It was a relief that I finally had an answer, but also scary to know that I had been suffering with this all my life without knowing,’ says Daniel.
With statins proving ineffective, Daniel’s consultants suggested that he would be a suitable candidate for an innovative new drug as part of a clinical trial.
‘I was a bit sceptical at first, as obviously you don’t know the risks, but I wanted to do something to help other people,’ says Daniel.
He was one of 35 adults with similar medical histories given a new gene therapy drug called VERVE-102. It works by disabling a gene vital in the production of LDL ‘bad’ cholesterol in the liver.
Given to patients by a single infusion, at the highest dose the therapy reduced LDL by up to 62 per cent – with the effect lasting for at least 18 months. For Daniel, this means his level has fallen from around three times above the safe limit to within a healthy range.
He has had surgery to unblock his heart arteries, and his heart attack risk is now considerably lower. Daniel says: ‘It’s been a massive relief – this treatment has saved my life.’
Prof Riyaz Patel hails the treatment as ‘an extremely exciting milestone’
Experts hope that VERVE-102 could help patients like Daniel for whom cholesterol-lowering medications are not effective.
Research shows that half of patients currently stop taking their cholesterol medication within a year of starting – often because they find it hard taking a daily pill or because of side-effects.
Professor Riyaz Patel, consultant cardiologist at Barts Health NHS Trust and professor of cardiology at University College London, who has been involved in the trial, says: ‘It is still early days, but this is an extremely exciting milestone. These findings show the technology works, is safe, and helps lower cholesterol to levels similar to medicines we currently have.
‘The therapy has the potential to provide a “one-and-done” approach to a very common condition, which would be transformative in preventing heart attacks and strokes over the long term.’
However, this is early-stage research, with the medication not expected to be available for a number of years.
Experts say there are also a number of hurdles to overcome before the treatment is rolled out more widely.
‘At the moment, we only have 18 months of safety data – for approval, we would need around ten years,’ says Professor Patel.
‘We also need to be able to show that the therapy does have a lifelong benefit.’
The other potential stumbling block for this therapy eventually being rolled out on the NHS is cost – gene therapies traditionally cost tens of thousands of pounds.
‘The cost could be around £200,000 a patient,’ says Professor Kausik Ray, a cardiologist from Imperial College London.
‘To administer it you also need IV steroids and antihistamines to reduce liver injury, so we will need to think about how and who can deliver that at scale.’
However, the trial researchers do not believe it will cost as much to deliver as some suggest.
‘Unlike other gene therapies, if this came into clinical use it would be delivered at scale to a large number of patients, which would bring the cost down. You’d also have to consider the cost of a one-off treatment versus a lifetime of NHS care,’ says Professor Patel.
While still at an early stage, experts say this technology could be revolutionary for the treatment of heart disease.
‘You can imagine a future, albeit quite far away, where this is offered to everyone and, in effect, we have a cure for heart disease,’ adds Professor Patel.
