The mother of two little girls born with an extremely rare genetic illness has accused health officials of issuing a “death sentence” to sufferers.
Gail Rich’s daughters Nicole, five, and Jessica, two, both have Batten disease, an incurable condition which reduces life-expectancy to an average of just 10 years old.
Both are currently being treated using a new drug called cerliponase alfa to prolong their lives.
Jessica receives the treatment as part of a groundbreaking trial in Hamburg, Germany, while Nicole is treated at London’s Great Ormond Street Hospital.
The drug is currently funded by the American pharmaceutical firm Bio Marin and, while it’s available in some European countries, it not offered on the NHS.
Now, the National Institute for Health and Care Excellence (NICE) has decided there is not enough long-term evidence about the effectiveness of the drug to make it available on the health service.
While the decision could yet be reversed, experts have recommended it isn’t approved as it isn’t considered a “good use of NHS resources”.
It means the sisters’ access to the drug remains in the hands of the US drug company, casting doubt over the availability of the drug for children in the future.
Gail, 40, of Throckley, Newcastle, said: “There’s no question that this drug works and the fact that there is no long-term evidence is unavoidable because it’s such a new drug.
“Not allowing it on the NHS is a death sentence for children born with the disease and it’s catastrophic for families living with it now.
“Even if they decide to reverse this decision, the longer they take the more damage is done to the children fighting it.”
After being diagnosed in 2016, Nicole’s illness has progressed rapidly, beginning to rob her of basic skills such as walking and talking.
Parents Gail and Matthew were dealt a cruel blow when it was discovered, while on a dream trip to Lapland, Jessica also carried the rare disorder – despite showing no symptoms.
But they were given hope when Jessica was accepted as the youngest ever participant in a medical trial aimed at the younger siblings of children who have the illness.
Nicole was then able to be treated with the same drug in London but, without the trial, Gail says there would have been no hope for the family.
And heartbroken Gail, also mum to Louis, believes the NHS needs to step up to help future families placed in this horrific position.
She said: “This drug is life-changing. We noticed improvements in Nicole straight away, she was like a difference child.
“Without this drug, my children aren’t expected to live beyond adolescence – their lives depend on it.
“Without NHS approval, their access to the drug is completely dependent on the good will and finance of a private pharmaceutical company.
“Jessica will continue to get the drug through the Hamburg trial but Nicole will be more vulnerable.
“This decision leaves families in limbo.”
The Batten Disease Family Association has launched an online petition calling on NICE to reverse its decision when chiefs meet to formalise it.
NICE’s Dr Peter Jackson said: “The committee agreed that, although cerliponase alfa is not a cure for CLN2 disease, it is an innovative treatment that is effective in the short-term in slowing the rate at which it progresses.
“Given the significant burden this disease places on parents and carers of children with the condition, and the subsequent negative impact this can have on the quality of their lives, anything that can help to improve the treatment of these children is to be welcomed.
“However, in the absence of long-term evidence about its effectiveness in stabilising the disease and preventing death, and having taken all the health and non-health- related benefits of cerliponase alfa into account, the committee considered that the drug was not a good use of NHS resources.
“The committee welcomed the company’s intention to engage with NHS England to develop a managed access agreement to address clinical and financial uncertainties, but it concluded that it could not recommend cerliponase alfa for use in the NHS in England based on the current submission.”
Source : Chroniclelive