Family of boy with Duchenne muscular dystrophy fight for access to life-changing drug

The family of a schoolboy with a rare muscle-wasting disease are fighting for a vital medicine to help prolong their son’s life.

Eight-year-old Sam Millar has a condition called Duchenne muscular dystrophy, a genetic muscle-wasting disease that progressively gets worse over time.

He is a statistical outlier – Duchenne UK says just 2,500 people in the UK have the condition – but like any other boy his age, he loves football and gaming.

Sam’s mum Karla told STV News: “If his friends are doing something he wants to do but he physically can’t do it, he’s like ‘ah I’d really like to do that mum’. I’m like, ‘well, you can try’ – and he will always try.”

DMS is usually found in boys and affects one in every 3,500 male births worldwide.

Many patients require full-time wheelchair use by their teens and eventually lose all mobility in their arms and legs, with the condition also affecting the heart and respiratory muscles.

For individuals with Duchenne, life expectancy is typically in the early 30s.

Sam's parents are pleading with doctors for a life-changing drug — Sam’s parents are pleading with doctors for a life-changing drug STV News

But as Sam gets older, the effects of DMD are only going to get more serious.

His frustrated parents have been fighting for a drug used to treat the condition in the US, which is within touching distance of being made available in the UK.

Givinostat, offered free of charge by the manufacturer, helps to activate muscle repair mechanisms, increase muscle fibre regeneration and reduce inflammation.

In December last year, Givinostat was conditionally approved for us in the UK by the Medicines and Healthcare Products Regulatory Agency, but there are still hoops to go through before the medication can be prescribed to the NHS.

The problem is, the longer that takes, the more damage that could be done – as families affected by DMD say, “time is muscle.”

Sam’s dad, Stephen, told STV News: “For every day, week, month that passes, these boys are getting weaker. Sam’s getting weaker, and there may become a time where it’s irreversible – the symptoms.”

An early access programme is available for Givinostat, but it’s understood individual health boards have to apply to get it and it means an extra level of resource to be administered.

Stephen has been told Sam is eligible for the programme, but as of yet NHS Lothian are not in a position to offer it to him.

He said: “We were at an appointment in January with Sam’s specialist and we were hoping then that he was going to be offered the treatment.

“The specialist consultant had said, unfortunately that’s not the case at the moment as they’re still working things out in the background due to resource and things.”

Karla added: “Nothing’s come out for Duchenne muscular dystrophy for 15 years, apart from the steroids that he takes daily. But with the steroids, there are mega side effects.

“It’s so frustrating that there’s a medicine right there that were able to get, but we’re not able to get.”

For Sam, staying positive is the only way forward, and he’s focusing on the future.

Sam, eight, with his parents Karla and Stephen STV News

He said: “Then I can walk a wee bit faster, and then I could do stuff I could not do, and then that’s going to be good for me.”

Alex Johnson, Co-Founder of the charity Duchenne UK says it’s imperative patients get the treatment without delay: “Patients with Duchenne are seen every six months anyway in clinic. They do have routine blood tests done. So we’re asking for some extra clinic time, some administration of running the scheme and there’s some extra blood tests needed for monitoring.”

The Scottish Medicines Consortium must approve the drug before it becomes fully available on the NHS.

A spokesperson for SMC said: “It is our aim to provide timely advice on the clinical and cost-effectiveness of all new medicines for NHS Scotland. We have been, and continue to engage with the company, and would welcome a submission for givinostat (Duvyzat) from them at the earliest opportunity.”

ITF PHARMA Ltd which is the UK affiliate of the Givinostat manufacturer Italfarmaco said it could not comment on a prescription only medicine to a public audience, which it said was in line with UK pharmaceutical regulations.

A Scottish Government spokesperson said, “Patient safety is paramount, and people living with rare conditions like Duchenne Muscular Dystrophy should have access to high-quality care and support that is safe, effective, and person-centred.

“It is for individual Health Boards to consider the implementation of any new medicine, and ultimately for the clinician in charge of the patient’s care to advise on suitable treatment options. We understand that Health Boards are currently considering how to schedule starting treatment in the most fair and equitable manner.”

Dr Tracey Gillies, medical director at NHS Lothian, said: “We are unable to discuss individual patients without their consent.

“In cases where a newly licensed medicine is currently under evaluation by the Scottish Medicines Consortium (SMC) and awaiting guidance, it is not routinely prescribed in Scotland.

“There are  processes in place to provide earlier access to medicines in the interim period and patients and their circumstances are considered on an individual basis.”