Children denied access to life changing drug due to paperwork say families

The families of children with a severe genetic muscle-wasting condition claim NHS failings are preventing them from accessing a drug that slows its progression.

Clinical teams lack the “capacity to process the paperwork” associated with administering givinostat, campaigners said.

The drug was made available to eligible patients through a type of compassionate use scheme known as an Early Access Programme (EAP) last year.

Parents described the situation as “unfathomable” and called for immediate action.

Duchenne muscular dystrophy (DMD) is the most common and severe form of muscular dystrophy.

It causes muscle degeneration and weakness due to a mutation in the gene that produces dystrophin, a protein that protects muscle fibres from breaking down.

The condition usually only affects boys, with patients unable to walk by the age of 12 and usually only surviving into their 20s and 30s.

There are about 2,500 people in the UK living with DMD at any one time, with about 100 new diagnoses each year.

Givinostat, also known as the brand name Duvyzat, is a first-of-its-kind treatment that belongs to a family of drugs known as histone deacetylase (HDAC) inhibitors.

These treatments reduce inflammation and fibrosis in muscle tissues while promoting muscle regeneration and slowing down the progression of DMD.

An EAP opened for givinostat at the end of 2024, meaning its manufacturer has made it available free of charge to the health service until regulators make a decision about its cost effectiveness and availability for routine access through the NHS.

Patients over the age of six with a confirmed diagnosis of DMD are eligible.

They should also be able to stand for less than 10 seconds, and should have been on a stable corticosteroid for at least six months prior to start the treatment.

Participation in the EAP is decided at an individual NHS trust level.

However, the charity Duchenne UK, which was founded by two mothers whose sons have DMD, claims no NHS trusts currently offer givinostat.

It alleges families have been told trusts do not have the resources to process the paperwork needed to administer the drug, or conduct blood tests for monitoring.

The charity’s co-founder Alex Johnson, whose 17-year-old son Jack was diagnosed with DMD in 2011, said: “When it was announced in November that givinostat was going to be available at no cost to patients or the NHS, families like ours were understandably excited.

“This is the first time there has been a treatment that can slow down the progression of the condition, so it is a huge moment for us.

“To later find out that the life-changing treatment – which is being given to the NHS for free – cannot reach the people who so desperately need it, all because clinical teams don’t have the capacity to process the paperwork, is unfathomable.”

Co-founder Emily Reuben, whose son Eli, 17, also has DMD, added: “Pressures on the healthcare system are currently failing our children.

“We can’t afford to sit back and accept that, because every second counts when it comes to Duchenne muscular dystrophy.

“That is why we’re calling for support to make sure that more time is not lost.”

In January, the charity’s co-founders and other families met with MPs, including Health Secretary Wes Streeting, to highlight the issue.

Ms Reuben said: “We’re really pleased that Wes Streeting and his colleagues spent so much time chatting to us and our boys and hope to work together to ensure that NHS trusts can overcome these challenges to help us to give our boys a fighting chance.”

A Department of Health and Social Care spokesperson said: “We are committed to supporting access to specialist care, treatment and drugs for those with rare diseases.

“It is for individual trusts to decide whether to take part in an Early Access Programme which provides access to givinostat.”

NHS spending watchdog the National Institute for Health and Care Excellence is currently appraising givinostat to determine if it should be rolled out on the health service.

A decision is expected later this year.

The drug was approved by the Medicines and Healthcare products Regulatory Agency in December.

An NHS spokesperson said: “We know how important access to new treatments is for patients and their families living with progressive conditions like Duchenne muscular dystrophy.

“So while Nice determine whether givinostat should be made routinely available and funded on the NHS, a number of trusts across the country are in the process of making preparations to offer the treatment via a company-led Early Access Programme, in which trusts themselves must cover substantial costs to administer the treatment.”

Published: 28/02/2025 by Radio NewsHub