Little Idrees was thrown a lifeline by the pharma company behind the only drug that could save him. But why won’t the NHS fund it?
At five years old, Idrees Qasim’s tummy was so swollen he struggled to walk. When he wasn’t in his pram, he wanted his mum and dad to carry him.
Tiny for his age, shy and physically cautious, Idrees was teased at school and couldn’t keep up physically with his sister, Eliza, seven, at home in Oxford.
Always a ‘daddy’s boy’, Idrees had walked and talked late and – although he didn’t seem in pain – had an abnormally round belly, explains his father, Qasim, 43, a hotel receptionist.
Concerned, Qasim took Idrees to the GP when he was two – and again, when his tummy was still swollen, aged three.
It wasn’t until he was four that the GP agreed there was a cause for concern and referred him for a scan. This showed his liver was three or four times the size it should have been.
After blood tests and more scans – which showed his lungs were also affected – in March last year Idrees was diagnosed with Niemann-Pick type B (NPB), an ultra-rare metabolic disorder, and was referred to a specialist team at Great Street Hospital (GOSH) in London.
NPB, which affects just 40 people in the UK and Ireland, causes a toxic, fatty substance to build up in the lungs, liver and spleen because the body lacks a vital enzyme – sphingomyelinase – to break it down.
This makes breathing difficult, and causes the liver and spleen to expand.
Idrees with his parents, Qasim and Sadia. He was diagnosed last year with a genetic disorder
Niemann-Pick type B, a metabolic disorder, affects just 40 people across the UK and Ireland
John Radcliffe Hospital in Oxford had never encountered a patient with NPB, says Qasim
John Radcliffe Hospital in Oxford had never encountered another patient with Niemann-Pick disease, says Qasim, who went home and googled it.
‘I’ll never forget reading the words ‘no effective treatment’ and ‘life expectancy late childhood to early teens’. We were absolutely heartbroken.’
Niemann-Pick is one of 50 rare, inherited diseases, called lysosomal storage disorders, where a faulty enzyme causes a build-up of waste products in cells.
T he only option for many patients until very recently was palliative management of ever-worsening, painful symptoms caused by the enlargement of the liver and spleen.
In the most serious form of Niemann-Pick, type A, fatty substance also builds up in the brain – patients die in infancy from respiratory failure and progressive neurological damage. Those with Niemann-Pick type B do not generally survive their teens.
However, a little over a year since his diagnosis, Idrees is able to copy sister Eliza doing roly-polys across the living room floor – thanks to a transformative new drug, olipudase alfa.
Developed by pharmaceutical company Sanofi and sold under the brand name Xenpozyme, it’s a manmade version of the faulty enzyme that reduces the size of the spleen and liver and improves lung function. Given as fortnightly infusions, it has been shown to increase life expectancy of people with NPB by around 30 years. Treatment is lifelong.
‘When we saw the specialist at GOSH, they told us Xenpozyme is a game-changer,’ says Qasim. ‘It was like being thrown a lifeline when we’d had no hope at all.’
But there is a cruel catch. While children in more than 50 other countries – including two in Scotland – are being treated with Xenpozyme, a month after Idrees was diagnosed, in April 2024, the National Institute for Health and Care Excellence (NICE) turned it down on cost grounds. This means that Idrees and 35 other patients with Niemann-Pick disease in England, Wales and Northern Ireland cannot get it on the NHS. So Idrees – who travels to GOSH with Qasim every two weeks for a three-hour infusion – is being given the drug by Sanofi on compassionate grounds.
While Sanofi told Good Health that it ‘will not change existing supply arrangements for patients currently on treatment as a result of the NICE decision’, for Idrees’s parents, Qasim and Sadia, 36, a retail assistant, it feels like being in limbo.
‘Every time I look at Idrees playing happily with his cars my heart breaks because of the uncertainty,’ says Qasim.
‘As long as he gets the medicine he is living a normal life – but we are on eggshells. At any moment it could be stopped and we’ll have to watch him become more and more unwell.’
The family, who live with Qasim’s mum Nasreen, 60, an accountant, have considered moving to Scotland to get treatment for Idrees.
‘We’d go anywhere in the world to get the treatment our boy needs,’ says Nasreen.
‘But at the moment it is not clear if it will continue to be funded in Scotland either – it will be reviewed next year. So we are stuck. Trying to live every day with hope, while not knowing what the future holds.’
Around 3.5million people – approximately one in 17 – are affected by rare diseases in the UK, as many as cancer.
Yet for 95 per cent of patients, no treatment is available.
This is because the high costs of development and small patient numbers can make drug companies reluctant to ‘adopt’ rare diseases.
To combat this, legislation introduced in 2013 for rare diseases, known as orphan-drug funding, incentivises companies with government subsidies and tax breaks. Even so, orphan medicines such as Xenpozyme (which took three decades to develop) are far less likely to be approved by NICE for NHS use on the cost grounds.
NICE must decide whether a drug’s effectiveness warrants its price. The benefits are measured in quality-adjusted life years (QALYs), reflecting the number of extra years of life the drug offers alongside improvements in quality of that life.
If a new medicine costs less than £20,000 per QALY gained, NICE generally considers it cost-effective.
For ‘ultra orphan’ drugs such as Xenpozyme, treating rare diseases (affecting less than one in 50,000 people), the threshold is higher, from £50,000 to £300,000 per QALY.
Discussions between NICE and Sanofi broke down over agreeing a price for Xenpozyme below this £300,000 threshold.
‘The company and NHS England entered into two rounds of commercial discussions – but could not reach an agreement on a price that would make olipudase alfa cost-effective,’ a NICE spokesman told Good Health.
A Sanofi spokesperson said: ‘Sanofi proposed a host of solutions to support access to olipudase alfa. Despite these efforts, we regret that no solution could be found within the constraints of the existing framework, which we believe to be rigid and inflexible.’
The Scottish Medicines Consortium approved Xenpozyme in 2023, under an ‘ultra-orphan drug’ pathway which allows early access to a therapy over three years while more data on effectiveness is gathered.
Idrees’s story isn’t about just one little boy, it has implications for everyone. In August, talks between the Health Secretary Wes Streeting and pharmaceutical firms broke down after months of negotiations.
While Wes Streeting insists he will not allow drug companies to ‘rip off’ the taxpayer with inflated drug prices, pharma giants – including Novartis and AstraZeneca – argued that the ‘declining competitiveness of the UK market’ means patients may miss out on access to groundbreaking drugs available in other countries.
A spokesperson for the Department of Health and Social Care told Good Health: ‘We recognise how upsetting the outcome of the independent NICE evaluation of Xenpozyme has been to those affected and it is disappointing that Sanofi was not able to make a more reasonable offer.
‘NICE has recommended many medicines for the treatment of rare diseases, where companies are able to price them fairly and in a way that reflects their clinical benefits.’
Y et data from the Association of the British Pharmaceutical Industry shows that more than 60 drugs which are available in Europe have not been made available in the UK over the past five years.
In August, Gilead Sciences decided not to submit Trodelvy for NICE assessment for HR-positive HER2-negative breast cancer. It said the UK demanded such a low price it couldn’t make a reasonable profit.
While the disagreements rumble on, it is patients such as Idrees who pay the highest price.
There is no alternative treatment for Niemann-Pick disease, only management of symptoms.
Alex Broomfield, a consultant in paediatric inherited metabolic diseases at GOSH, says: ‘The symptoms become increasingly debilitating with age and treatment is focused on managing them.’
Toni Mathieson, CEO of Niemann-Pick UK (NPUK) – and the mother of three children who all died in infancy from Niemann-Pick type A – describes NICE’s decision as ‘devastating’.
After the deaths of her children – Hannah and Samuel in 2004, followed by Lucy in 2007 – she has campaigned tirelessly for others to receive Xenpozyme.
‘Their [NICE’s] assessments fail to acknowledge the higher costs of developing drugs for very small patient populations, or to account for the wider realities of living with rare diseases or caring for those who do,’ she says.
‘As a result, patients are left waiting years longer than those in countries such as Germany, France and the US to access therapies already shown to deliver clear clinical benefit.’
NICE says Xenpozyme costs £3,612 per 20mg vial, excluding VAT, with a recommended dose of 3mg per kilogram of body weight; for Idrees, who weighs 17kg, treatment would cost approximately £282,000 annually.
‘The estimated cost to the NHS of providing Xenpozyme to all 40 children per year would be £20million, just a fraction of its annual budget,’ says Toni Mathieson. Whether the NHS should spend more on life-prolonging drugs for a tiny minority, or focus spending on improving health services for all remains contentious, but the lifetime cost of caring for sick and dying children must also be considered.
‘It would be a transformative therapy for people with this rare disease,’ adds Toni Mathieson. ‘What cost do you place on a life?’ On the day Idrees was diagnosed, Nasreen remembers her son bursting into tears. ‘There seemed no hope,’ she says.
Two months into treatment, Idrees’s body shape changed completely. ‘You don’t want to use the word ‘miraculous’ lightly, but that’s what it felt like,’ says Nasreen.
‘His liver and spleen reduced to near-normal, his big tummy disappeared and he was running about, playing with his sister and enjoying school for the first time.’
For now, Idrees will continue to receive Xenpozyme: another child will not be as lucky.
‘We are so grateful for everything we’ve been given, but this isn’t just about Idrees,’ says Nasreen. ‘It’s unbearable to think that others with this disease will suffer and die unnecessarily.’
