On 22nd February 2023, PTC Therapeutics, Ltd. announced the National Institute for Health and Care Excellence (NICE) has published its Final Guidance recommending Translarna™ (ataluren) for reimbursement and use across the National Health Service (NHS) in England and Wales. Translarna is the only approved treatment for patients with nonsense mutation Duchenne muscular dystrophy aged 2 years and older who can walk.
The final Guidance allows patients to continue treatment on ataluren and does not include a formal stopping rule, which is a criterion used to identify when someone should stop receiving a treatment. NICE concluded that the decision to stop treatment should be taken after individual discussions between patients, caregivers, and clinicians.
“The published final NICE Evaluation and agreement with the NHS provide critical access to Translarna for newly diagnosed and existing patients with nonsense mutation Duchenne in England and Wales,” said Jesse Sibarium, Senior Vice President and General Manager – EMEA, PTC Therapeutics. “The decision to not include a formal stopping rule in the Evaluation is positive. It recognises points raised by Action Duchenne, MDUK and other patient and clinical experts, in evidence to NICE, that clinicians would want the option to continue using Translarna after their patients lose the ability to walk because of the potential ongoing therapeutic benefits seen.”
Duchenne is a severe progressive disease that leads to rapidly worsening muscle function with children often using a wheelchair by early adolescence and eventually requiring artificial ventilation to breathe.1,2 The NICE recommendation was based on data from clinical trials and real-world evidence demonstrating Translarna’s potential to slow disease progression and improve patient outcomes.1-3
The decision to not include a formal stopping rule in the Evaluation is positive. It recognises points raised by Action Duchenne, MDUK and other patient and clinical experts, in evidence to NICE, that clinicians would want the option to continue using Translarna after their patients lose the ability to walk because of the potential ongoing therapeutic benefits seen.Jesse Sibarium, Senior Vice President and General Manager – EMEA, PTC Therapeutics
1 Birnkrant DJ et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol. 2018; 17:251–67.
2 Duchenne Muscular Dystrophy. Muscular Dystrophy Association. Available at: https://www.mda.org/disease/duchenne-muscular-dystrophy. Last Accessed October 2021.
3 National Institute for Health and Care Excellence Highly Specialised Technologies Guidance HST22 accessed 22nd February 2023 https://www.nice.org.uk/guidance/hst22/chapter/1-Recommendations
About Translarna™ (ataluren)
Translarna (ataluren), discovered and developed by PTC Therapeutics, is a protein restoration therapy designed to enable the formation of a functioning protein in patients with genetic disorders caused by a nonsense mutation. A nonsense mutation is an alteration in the genetic code that prematurely halts the synthesis of an essential protein. The resulting disorder is determined by which protein cannot be expressed in its entirety and is no longer functional, such as dystrophin in Duchenne. Translarna, the trade name of ataluren, is licensed in multiple countries including Great Britain, Northern Ireland and the European Economic Area for the treatment of nonsense mutation Duchenne muscular dystrophy in ambulatory patients aged 2 years and older. Ataluren is an investigational new drug in the United States.
About Duchenne Muscular Dystrophy (Duchenne)
Primarily affecting males, Duchenne is a rare and fatal genetic disorder that results in progressive muscle weakness from early childhood and leads to premature death in the mid-20’s due to heart and respiratory failure. It is a progressive muscle disorder caused by the lack of functional dystrophin protein. Dystrophin is critical to the structural stability of all muscles, including skeletal, diaphragm, and heart muscles. Patients with Duchenne can lose the ability to walk (loss of ambulation) as early as 10 years old, followed by loss of the use of their arms. Duchenne patients subsequently experience life-threatening lung complications, requiring the need for ventilation support, and heart complications in their late teens and 20s.