Brineura© treatment for CLN2 disease
The Managed Access Agreement and BDFA involvement
The CLN2 gene, which is found on chromosome 11, produces an enzyme called tripeptidyl peptidase 1 the purpose of which is to break down proteins. The enzyme is insufficiently active in CLN2 disease and as a result those unbroken down proteins settle in the brain tissues. Developmental delay begins around the end of age 2. Children develop seizures and begin to gradually lose the ability to walk and speak. Brief, involuntary jerks in a muscle or muscle group (called myoclonic jerks) typically begin around age 4-5. By age 6 most children are completely dependent on their caregivers, and many will require a feeding tube. Most children with CLN2 disease die between the ages of 8–12 years. Until recently, the only treatment options for children with CLN2 were treatments that relieved symptoms of the condition, or palliative care in the final stages of the disease.
BioMarin undertook research and developed an enzyme replacement therapy trademarked as Brineura and became available with NHS England approval in September 2019 under a three year “Managed Access Agreement”.
The drug, which is called cerliponase alfa or Brineura, has been approved by the NHS following successful clinical trials at Great Ormond Street Hospital in collaboration with other centres around the world.
The therapy, which is infused directly into the brain via an implanted device, has been shown to restore enzyme activity and slows the onset of disability. In the trial, patients given cerliponase alfa showed 80% less decline in patients’ motor and language skills, when compared to the natural progression of the disease. The new therapy also reduced loss of brain tissue.
Professor Paul Gissen, NIHR GOSH BRC deputy theme lead for Novel Therapies and lead investigator at GOSH, said at the time of launch of the drug:
“The research shows that this cutting-edge therapy can make a huge difference for patients with this devastating condition. Until now there have been no drugs to treat Battens Disease so we are delighted that the treatment has been made available”.
After a National Institute for Health and Care Excellence (NICE) Highly Specialised Technology (HST) appraisal, in November 2019, NICE recommended that a Managed Access Agreement (MAA) be put in place to enable access to Cerliponase Alfa (also known as Brineura© and collect more information on its benefits, before deciding whether it should be routinely available through the NHS for patients with CLN2.
More information on the MAA can be found in this guide link to the MAA booklet
The 5-year MAA period will end in November 2024. NICE will consider all the existing evidence and new information gathered during the MAA in order to make a decision about whether or not to recommend Brineura for routine availability through the NHS.
The BDFA are an important part of this process with 3 priorities:
- To generate and provide information needed to support NICE’s re-evaluation and decision making
- To ensure that the CLN2 community are well informed for the remainder of the MAA of progress and the next steps in the process
- To involve the CLN2 community in the generation of evidence and the re-evaluation process
The BDFA will be providing an update in mid-2023 when our new website will be up and running.
Any queries on the MAA please contact: Dr Joanna Nightingale, Head of Scientific Affairs, firstname.lastname@example.org