The Government is being called on to intervene in discussions about the funding of an innovative treatment for children with a type of Duchenne muscular dystrophy.

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 20 EU 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).

However earlier this 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, but these have ‘yielded little progress', according to MDI.
It is calling on the Government to intervene in this issue.

"This therapy does not apply to all boys with Duchenne muscular dystrophy, rather a very small number who have a very specific genetic defect. Even then, it is only available to those who are aged five years and older who are able to walk. So it is hugely disappointing that an agreement has not been reached between the HSE and the makers of Translarna," commented Clair Kelly of MDI.

She pointed out that the window of opportunity ‘is a narrow one', as by the time these children are around six years of age, their muscle power starts to decrease, with most unable to walk by the age of 12.

"It is clear that time is not on their side and they can ill afford this waiting game. The evidence points to Translarna making a significant difference to the lives of those who receive it, slowing progression of the condition, keeping them mobile for longer and able to make the most of their childhood years.

"That is why today we are 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," Ms Kelly said.

Anne Marie Harte from Castlebar in Mayo has a five-year-old son, Lewis, who is affected by this particular type of Duchenne muscular dystrophy. She emphasised that ‘treatment delayed is treatment denied'.

"The longer we wait for Translarna to be approved, the longer patients with Duchenne muscular dystrophy, like our son suffer, from the unchecked deterioration of their muscle strength.

"For the treatment to be prescribed, a child must be over five years of age and still be able to walk. It is so unfair knowing that there is a treatment out there that can help him but is being denied to him. This is a race against time that we don't have. It's simply agonising," she said.

The call for the Government to intervene was made to coincide with World Duchenne Awareness Day (September 7). To mark this event, MDI is hosting a Facebook question and answer session on September 7 for MDI members, families and the public.

This online event will take place from 3-4pm - simply check in online at facebook.com/mdiireland

For more information on MDI, click here