The only drug that treats children with a rare degenerative disease called Batten disease could be withdrawn within the next few months if negotiations over its price fail.
Batten disease, also known as CLN2, is quite simply cruel. The symptoms are seizures, loss of speech, mobility. Muscles spasm, dementia and blindness. The average life expectancy is 12.
When Beatrice Cieslik was diagnosed at the age of four, her parents Matt and Anna were devastated. But within a week she was on the only treatment available, Brineura, manufactured by Biomarin.
More than a year later, the disease progression seems to have halted. She goes to school, she dances, rides her scooter, plays with her friends in the park.
But Beatrice is only receiving the drug because it is being provided through NHS England and the National Institute for Health and Care Excellence (NICE) under a managed access agreement, a special provision while more evidence is gathered.
It was put in place in 2019 after NICE refused to recommend the drug which costs more than £500,000 per patient per year. They said at the time that it was too expensive and that while it did appear to slow the disease progression, it was not life-saving.
The managed access programme was again extended last October but runs out this May. If Biomarin, Nice and NHSE cannot reach an agreement it is likely that the drug will no longer be available.
Batten Disease is very rare. Between one and six children are born with it each year. Only 40 children are currently receiving the treatment in the UK.
The thought of the drug being removed is ‘pretty terrifying,’ Beatrice’s mother told us.
“Time is so precious with our children and have to now worry if they are going to get the drug that is keeping them with us. It is heartbreaking.”
Biomarin, NHSE and Nice all said negotiations were on-going and the discussions have been constructive.