RARE Daily

NICE Recommends Reimbursement for Group of Rare Disease Medicines

January 19, 2023

The National Institute for Health and Care Excellence, the UK drug price watchdog, has issued a Final Evaluation Document recommending reimbursement and use of PTC Therapeutics’ Translarna for patients with nonsense mutation Duchenne muscular dystrophy.

Photo: Stuart Peltz, CEO of PTC Therapeutics

Duchenne muscular dystrophy 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. 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.

Translarna 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 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.

“The positive 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 Stuart Peltz, CEO of PTC Therapeutics. “This recommendation marks an important milestone for the Duchenne community and reinforces PTC’s longstanding commitment to pursue access for patients who can benefit from this treatment.”

Separately NICE issued final draft guidance recommending Alnylam’s Amvuttra for use in the National Health Service England as an option for treating hereditary transthyretin-related (ATTRv) amyloidosis, an inherited, progressive disease caused by mutations in the TTR gene.

TTR protein is primarily produced in the liver and is normally a carrier of vitamin A. Variants in the TTR gene cause abnormal amyloid proteins to accumulate and damage body organs and tissue, such as the peripheral nerves and heart, resulting in intractable peripheral sensory-motor neuropathy, autonomic neuropathy, and/or cardiomyopathy, as well as other disease manifestations. The median survival is 4.7 years following diagnosis, with a reduced survival (3.4 years) for patients presenting with cardiomyopathy.

NICE also recommended Takeda’s Ninlaro with lenalidomide and dexamethasone as an option for the rare blood cancer relapsed and refractory multiple myeloma.

Ninlaro is an oral proteasome inhibitor is indicated in combination with lenalidomide and dexamethasone for the treatment of patients with multiple myeloma who have received at least one prior therapy.

Author: Rare Daily Staff

Stay Connected

Sign up for updates straight to your inbox.