The Duchenne muscular dystrophy treatment, Translarna, is available on the NHS across the UK. In England this is part of what is called a Managed Access Agreement (MAA). Muscular Dystrophy UK and Action Duchenne have answered some frequently asked questions below, including details about Translarna and the MAA process.
About Translarna
Q: What is Translarna?
A: In August 2014, Translarna became the first drug to be given approval to treat the genetic cause of Duchenne muscular dystrophy, outside of a clinical trial. It has been designed to address a particular genetic mutation, called a “nonsense mutation”, causing 10-15 percent of cases of the condition.
Q: Who is Translarna for?
A: Translarna (also known as ataluren) has been developed to treat children whose Duchenne muscular dystrophy is caused by a ‘nonsense’ mutation. Translarna is the first drug to address an underlying genetic cause of muscular dystrophy to be recommended for use on the NHS in England. It is available for children who are:
- aged five years and over
- are still able to walk – 10 steps unaided
Currently, Translarna is not licensed for younger children or children who have lost the ability to walk. More clinical trials will be needed to assess the efficacy and safety of Translarna in these groups of individuals.
Q: How does Translarna work?
A: Translarna works by enabling the protein-making apparatus in cells to ignore and move past the premature stop signal, allowing the cells to produce a functional dystrophin protein. Translarna is taken orally in a powdered solution that is dissolved into a small amount of liquids.
Q: Can you take Translarna when you are on steroids?
A: Ataluren will be considered as a treatment option for all ambulatory patients aged 5 years and older living with Duchenne resulting from a nonsense mutation (nmDMD). It will be added to existing standard treatment, including use of corticosteroids.
About the Managed Access Agreement (MAA)
Q: What is a Managed Access Agreement?
A: An agreement between NHS England and NICE which enables patients to receive new treatments while long-term data on them is still being gathered and before final funding decisions are taken (at the end of the 5 years).
Q: Who is eligible for the MAA?
A: Translarna will be considered as a treatment option for all ambulatory patients aged 5 years and older with Duchenne resulting from a nonsense mutation. All patients need to sign up to the MAA patient agreement before starting treatment with Translarna.
Q: How many people are receiving Translarna via the MAA?
A: About 80 children in England have been started on Translarna since August 2016 via the Managed Access Agreement.
Q: Are there any reasons I will stop receiving Translarna via the MAA?
A: A patient will stop receiving Translarna under the following ‘stop criteria’:
- The Patient is non-compliant with assessments for continued therapy (non-compliance is defined as fewer than two attendances for assessment in any 14 month period).
- If a patient has lost all ambulation (i.e. can no longer stand even with support) and has become entirely dependent on wheelchair use for all indoor and outdoor mobility (other than for reasons of an accident and/or an intercurrent illness), the patient’s physician needs to discuss stopping ataluren treatment.
In such cases as defined above, patients should stop treatment no later than 6 months after becoming fully non-ambulant. If you have any questions about the stop criteria, you should raise these with your physician.
Q: What happens at the end of the MAA?
A: At the end of 5 years, NICE will review all the extra information they have gathered (including all the clinical and Quality of Life data) and look again at how well Translarna works in patients. If at the end of the 5 year MAA, NICE no longer recommends Translarna for NHS funding, then NHS England funded treatment would need to stop.
However, if at the end of the 5 year MAA, NICE recommends Translarna for further NHS funding, then it will continue to be funded in England according to the arrangements between NICE and NHS England at that time.
Muscular Dystrophy UK and Action Duchenne are signatories to the Managed Access Agreement, alongside NICE, NHS England and clinician representatives. If you would like any more information about Translarna or the MAA process, please contact Clare Lucas (MDUK) or Diana Ribeiro (Action Duchenne).