'Weight lifted' for Tyneside family as girl, 9, told she won't lose access to 'miracle' drug
by Sam Volpe · ChronicleLive"A weight has been lifted" for a Tyneside family as a "miracle" drug will now be available for as long as their daughter needs it.
Jessica Rich, 9, has Batten disease and now knows she will continue to be able to access a treatment called that has had an incredible impact on her life so far. Jessica was diagnosed with the illness shortly after her elder sister Nicole, and this meant that in her case it was caught very early - and she was able to get treatment very early through a world-leading clinical trial.
However, despite the treatment's success, until this week it was not clear if she would be able to have the treatment - Brineura - beyond this autumn. Now though, it has been confirmed by the National Institute for Clinical Excellence that all children like Jessica to already be given the medication during a "managed access period", will continue to get it.
Devastatingly, big sister Nicole died in late 2023 - but in welcoming the news, mum Gail told ChronicleLive how they had always been fighting for both girls, and they would continue to do so. The family, Gail said, would continue to fight along with the rest of the Batten Disease community until the treatment is available to all children diagnosed in the future, too.
Gail said the news signified a "massive accomplishment". She said: "The weight of uncertainty has been lifted from our shoulders as we celebrate that our children’s treatment has been secured! We have been campaigning, fighting, advocating and telling anyone who will listen, our children deserve to have Brineura.
"It should not have been such a lengthy fight but we were prepared to fight as long as it took to know that Jessica & her friends were safe. They are now and it feels incredible! But our work is not done."
She said that though Nicole - known lovingly as "Coley" - is no longer here, this was a victory in her honour, too. Gail said in a moving message directed towards her elder daughter: "We were fighting for you and your sister to give you the best chance in life. To give you what you deserved and needed. You have been in our hearts every step.
"We hope we did you proud. We were proud to be your voice sweetheart and we always will be."
The news comes as the NHS has agreed a deal with the medicine manufacturer - while a consultation on guidance for the use of the treatment continues.
Liz Brownnutt, chief executive of the charity Batten Disease Family Association, said: "We are pleased that an agreement has been reached to provide permanent access for children currently on treatment and those who initiate onto treatment during the extended MAA. However, our task to secure access to Brineura for future diagnosed children will continue in earnest.
"Withdrawing access from the NHS treatment in the future could lead to a situation where one child with Batten disease has access and another does not. We will therefore not stop advocating and fighting until we receive final positive guidance, which makes Brineura accessible to all children diagnosed with CLN2."
CLN2 is a particular kind of Batten disease that both Nicole and Jessica were diagnosed with. While it was more progressed in Nicole's case, Jessica's illness was treated early with Brineura - in fact she was the youngest person to ever get the treatment.
Trials - which have included Jessica - have shown how Brineura - a kind of enzyme replacement therapy - slows the progression of the disease. If left untreated, Batten disease causes the sufferer to slowly lose their eyesight and ability to walk. It is progressive, and means a child with it has a typical lifespan of just six to 12 years.
In a statement published by NICE, the regulator said: "Our draft guidance does not, at present, recommend the treatment’s use for future patients with this rare, life limiting disease due to its high price and the limited evidence of long-term effectiveness.
"With our support, NHS England and BioMarin have agreed to permanently provide cerliponase alfa (also known as Brineura) to people with CLN2 who have already started treatment or will be started on treatment before the end of the newly extended access period. This is due to close when we publish our final recommendations or by the end of 2025, whichever is sooner.
"This means that people will be able to stay on the treatment even if we are unable to recommend it for new patients beyond that point. Alongside ourselves, NHSE and the company continue to work towards a solution to secure access to all future patients but at the moment the treatment is not considered cost effective."
Helen Knight, director of medicines evaluation at NICE, said: “We’re pleased that NICE has been able to support NHSE and the company in reaching an agreement to make access to cerliponase alfa permanent for everyone who has already started treatment and those who will start treatment before the managed access agreement ends in December.
"NICE, together with NHS England, remains committed to working with the company to try to reach a long-term deal that will give access to cerliponase alfa to all eligible people after that time."
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