A decision by the HSE not to fund a drug for children with Duchenne muscular dystrophy has been described as hugely disappointing.

There are around 30 types of the neuromuscular condition, muscular dystrophy. Duchenne is the most common and most severe type, mainly affecting boys. It affects around one in every 3,500 male births and usually boys with the condition lose their ability to walk between the ages of 10 and 14. By their late teens, they tend to lose strength in their upper bodies, including their arms.

The progressive muscle weakness associated with this condition also leads to other serious health issues, such as heart and lung problems.

Translarna is an innovative treatment for people with a certain type of Duchenne muscular dystrophy. Specifically, it is aimed at those whose condition is caused by a particular genetic defect - known as a nonsense mutation in the dystrophin gene - and who are aged five and older and still able to walk.

According to Muscular Dystrophy Ireland (MDI), Translarna is the first treatment to address the underlying genetic cause of Duchenne muscular dystrophy.

It is currently available and being prescribed to boys in more than 22 European countries, with some of these receiving it since late 2014. It has also recently been made available in Northern Ireland and England and is the first Duchenne-targeting treatment to receive conditional marketing approval by the European Medicines Agency (EMA).

Last year, the National Centre for Pharmacoeconomics (NCPE), which facilitates healthcare decisions on the reimbursement of treatments using clinical and scientific evidence, decided not to recommend Translarna for reimbursement here.

Since then, discussions have been taking place between the makers of the treatment, PTC Therapeutics International Limited, and the HSE. However, the HSE has now decided not to fund the drug.

"Since 2014, over 400 children in 22 European countries have been receiving this treatment. That means that 80% of eligible children are now receiving the drug and this leaves Ireland as one of the last remaining countries to facilitate treatment.

"It would appear that Ireland's decision not to reimburse for Translarna is at odds with regulators, health authorities and experts across Europe. Would this imply that the EMA and the 22 other European countries have all got it wrong? Or is it just that we are behind the curve?" asked Richard Lodge, CEO of Muscular Dystrophy Ireland (MDI).

He pointed out that the drug would only be used in Ireland by a ‘very small number of boys - five at present'.

"It is hugely disappointing that the HSE has decided not to reimburse for this treatment. Expert opinion across Europe believes that Translarna makes a significant difference to the lives of those who have received it, slowing progression of the condition, keeping them mobile for longer and helping them to make the most of their childhood years," Mr Lodge explained.

Speaking about the HSE's decision, Anne Marie Harte of Castlebar in Mayo, who is mother to five-year-old Lewis, emphasised that Translarna is her son's only treatment option.

"It is so unfair knowing that there is a treatment out there that can help our son, but it is being denied to him. This is a race against time that we don't have. It's simply agonising," she said.

MDI is calling on the Minister for Health, Simon Harris, to intervene ‘and to ensure that the boys that desperately need this therapy receive it without further delay'.

For more information on muscular dystrophy and MDI, click here