Translarna

Pharmaceutical company: PTC Therapeutics

Our genes are the instruction manuals to make proteins. Proteins play an important role in all the tasks our cells do. Just like how there is a full stop to show that a sentence has ended, genes also have stop signals to show when the instructions for a protein have ended.

Some people with Duchenne muscular dystrophy have a specific change in the gene for the dystrophin protein, called a nonsense change (scientists call it a ‘nonsense mutation’). This causes the stop signal to be in the wrong place, shortening the instructions for dystrophin and preventing functional dystrophin from being made.

Translarna tells the cell to ignore the early stop signal so that the full-length, working dystrophin protein is made. Translarna comes in a sachet and can be swallowed after mixing it in a liquid or semi-solid food.

Translarna is currently available through the NHS in the UK for children aged two and over with Duchenne muscular dystrophy caused by a nonsense genetic change.

Translarna was granted a conditional license from the Medicines and Healthcare products Regulatory Agency (MHRA) in 2014. As Duchenne muscular dystrophy has limited treatment options, a conditional approval means the treatment can be accessed while additional data is collected to confirm it works.

In February 2023, the National Institute of Health and Care Excellence (NICE) recommended Translarna for children aged two and over, who can walk, with Duchenne muscular dystrophy caused by a nonsense genetic change. At this point, it became available through the National Health Service (NHS) in England, Wales and Northern Ireland.

Read the full NICE guidance.

In Scotland, Translarna is available through the Scottish Medicines Consortium ultra-orphan pathway until 2025, when it will be reassessed. Find out more about on the SMC’s website.

Translarna will be reassessed by the Scottish Medicines Consortium in 2025.

Translarna has been tested in several clinical trials and has been shown to be safe in all these trials.

In the phase 2 trial, 174 participants, aged between 5-20 years old, were randomly assigned to receive either one of two doses of Translarna or placebo (dummy drug). After 48 weeks, participants who received the lower dose (40 mg/kg/day) of Translarna showed a slowing in the rate they lost their ability to walk, compared to placebo. On average Translarna treated participants walked 30-meters further than those on placebo in the six-minute walk distance test (6MWD).

In the phase 3 trial, 230 participants, aged between 7-16 years old, were randomly assigned to receive Translarna (40 mg/kg/day) or placebo. After 48 weeks, participants who received Translarna showed a slowing in the rate they lost their ability to walk, compared to placebo. On average Translarna treated participants walked 13-meters further than those on placebo in the six-minute walk distance test (6MWD). However, the researchers could not confirm that these results were not due to chance. Researchers refer to this as ‘not statistically significant’.

Real-world evidence

Since Translarna has been approved for use around the world, additional data has been collected while it has been routinely used. This is known as ‘real-world evidence’. The STRIDE database collected data from people taking Translarna, with an average use of five years. To analyse the impact of Translarna over a longer period, the researchers compared people from the STRIDE database with people with DMD who had never received Translarna.

To do this the researchers used data from a natural history study. These studies follow people living with DMD who receive usual standard of care, including treatment with corticosteroids, but not Translarna. The researchers made sure the participants from the STRIDE database and the natural history study had similar characteristics, such as age, so that a more accurate comparison could be made.

The researchers found that participants who received Translarna, lost the ability to walk at a later age than those receiving usual standard of care. Those who received standard of care were, on average, able to walk up to age 13. Translarna treated were, on average, able to walk up to age 17.

It is important to note that real-world evidence does come with limitations and potential for bias. Placebo controlled clinical trials are the gold standard in gathering evidence to determine if a treatment has a beneficial effect.

Last updated: 07/04/2025