The parents of a young Newry boy living with Duchenne Muscular Dystrophy (DMD) are calling for immediate action from government officials to grant access a licensed drug that could change the lives of 13 boys in Northern Ireland – despite having been already denied.
Colleen and Jamie Pentony have spent years fighting for access to the best possible treatments to help slow progression of their son, Alfie’s condition.
Following his diagnosis with the inherited condition, which causes progressive muscle weakness, in November 2016, 12-year-old Alfie has been attending bi-annual appointments at a private hospital in Newcastle, England which specialises in treating DMD.
At home, Alfie takes steroid medication to slow the degenerative effects of his condition, and this is interspersed with yearly visits to America for advanced specialist treatment – all coming at a considerable cost to his family.
However, a new trial drug that Colleen believes could be “life-changing” has now been approved for UK use by Medicines and Healthcare products Regulatory Agency (MHRA) for all people with DMD aged 6 and older.
Yet, despite its approval in December 2024, Colleen said the Belfast Trust are refusing to implement its use here in Northern Ireland – a move she says will affect the quality of life for 13 boys living with DMD across the country.
According to Duchenne UK, the drug – known as Givinostat – showed that the drug’s clinical trial met its primary and secondary endpoints, showing efficacy in slowing down disease progression.
The drug’s approval by MHRA marked a “a very special day” for the charity who had been campaigning for its use since April 2024, with 260 families writing in to express their views.
It is now available through an ‘Early Access Programme (EAP)’ with local NHS Trusts being invited to taker part in the scheme – with the ability to provide medication to patients at no cost.
Patients must meet criteria to be considered, however, including demonstrating that they are ‘ambulatory’ (walking) at the start of treatment and issue a conditional approval for patients that start treatment when no longer ambulatory (non-walking).
This need to prove ambulatory is the very reason for Colleen’s call for immediate action.
Speaking to Armagh I, Colleen, explained: “The nature of the condition is that every day the muscles are slowly wasting. By the end of the year some of these boys could be off their feet and not be eligible for it. Every day the boys aren’t getting some sort of treatment their muscles are getting weaker.
“Alfie fell a few months ago and broke his hip so we just don’t know. He could be immobile tomorrow waiting for this drug.”
The charity does state that “for Givinostat to be made available to every patient who could benefit, it needs to be assessed for cost effectiveness by the National Institute for Health and Care Excellence (NICE) which will decide if it can be available on the NHS.
“The company will present to NICE in May 2025, which means it likely won’t be available on the NHS until the end of 2025.”
But by then, Colleen and Jamie say it could just be “too late”.
As it stands in Northern Ireland, Alfie and the 12 others like him will be unable to participate in the EAP – and Colleen said the Minister of Health, Mike Nesbitt was actually “unaware” that the drug had even been licensed.
In a letter dated January 2, 2025 – which Armagh I has seen – the Health Minister said: “As you have stated, Givinostat is a new treatment for DMD which is currently undergoing regulatory review by the MHRA and as such is not currently licensed for use in the UK or routinely available in Northern Ireland.”
The Health Minister continued in his letter to address the need for licensing before its routine use could be discussed but referenced the Early Access Programme in stating: “Access to the EAP for Givinostat is subject to meeting specific criteria set by the manufacturer. If access if approved by the manufacturer, the medicine will be supplied to the Trust at no cost. However, the Trust will be responsible for any additional costs associated with treatment administration.”
This last point is the stumbling block that Colleen and other parents of children with DMD living in Northern Ireland have now encountered.
Alfie’s father, Jamie, said: “A nurse for Belfast Trust informed us that they don’t have the storage capacity or the nurses to do the blood tests or read the blood tests.
“But Duchenne UK have already told us that they would provide a fridge if there was an issue with storage capacity. And with regards to the seven blood draws we have been told that they are very simple and can be taken by any nurse and can be read by any nurse too.
“Really what we are missing is some goodwill from the Trust and maybe the neurology department to find a day in the month or take half an hour off our future appointments and let’s get this thing up and running.”
Colleen added: “Why do these boys have to be failed by our system? I know it’s on its knees [the health system] but it’s seven blood tests over six months and a consultation with the neurologist but if they say they have no capacity surely they can get us all into the one room in one sitting and talk to us to explain and then make a decision?”
Certainly, Trusts in England seem to be moving at a much quicker pace, with several patients expecting to be granted access to the programme in the coming weeks.
Speaking to the situation in England, Una Farrell Head of Communications for Duchenne UK, said: “We are certainly hearing from parents of children with DMD that specialists are talking with them about preparing to take part in this new scheme. We expect the first child to be dosed with Givinostat in the near future.
“All of the trusts have been saying that there are, what they call ‘administrative issues’. We know that there will be issues with extra paperwork for blood draws etc and all trusts will have that because it is a new drug but other trusts seem to be preparing to meet these challenges.
“Time is muscle and this is time that they will never get back. Finally, finally there is a treatment that has proven to slow down progression of this disease.
It’s been approved by the MHRA for use throughout the UK and the company [Italfarmaco S.p.A.] is providing it to the NHS at no cost so we really don’t understand why there isn’t more willingness.
“These challenges don’t seem insurmountable at all.”
Armagh I have contacted Belfast Health and Social Care Trust and the Department of Health for comment.
