Dr. Ineka Whiteman says it’s unknown what the future looks like for children like Charleigh Pollock who have been treated since age 3
A leading researcher in Batten disease is questioning why a possible life-and-death decision on drug coverage for a nine-year-old Langford girl with the terminal condition was made without visiting her or her family.
Brineura is the only medication approved to slow the progression of the form of the fatal neurodegenerative condition Charleigh Pollock has, called ceroid lipofuscinosis type 2 (CLN2).
But neuroscientist Dr. Ineka Whiteman, head researcher for the Batten Disease Support and Research Association in the U.S. and Australia, said real-world data on the benefits of the drug are still being collected, calling it a “really important therapy that’s changed the whole paradigm and the whole trajectory of this condition.”
Whiteman, who is based in New Zealand, said while the general life expectancy of the disease is age 10 to 12, it’s unknown what the future looks like for children like Charleigh who have been treated since age 3.
“What we don’t have is information on what does ‘end of life’ look like for these kids that have been on Brineura, when is end of life?”
For six years, the province has covered the near $1-million annual cost of bi-weekly infusions of Brineura for Charleigh, to slow progression of the disease, under the province’s expensive drugs for rare diseases program.
But B.C. Health Minister Josie Osborne announced on June 18 that coverage would be discontinued, based on a recommendation from Canada’s Drug Agency, given the advanced stage of Charleigh’s condition.
Canada’s Drug Agencynotes in its report that “evidence is limited regarding advanced disease and when to stop treatment.”
Given that, Whiteman suggests it’s unconscionable to stop infusions without sufficient evidence.
“Basically, government and agencies are making the decision on when is the appropriate time to stop Charleigh’s treatment, even in the absence of evidence of what is good discontinuation criteria and what is the right time to be discontinuing,” said Whiteman.
If the funding decision can’t be overturned, it’s unclear what will happen to Charleigh, said Whiteman. “How [quick] is her progression going to be? And will it be as unpleasant and distressing as it is for children who were untreated?”
In the final stages of the disease, untreated children suffered severe muscle contractions, uncontrolled seizures, and aspiration breathing or pneumonia — “a lot of them end up choking,” said Whiteman.
“This is basically the sentence that the government has given Charleigh, even though they have the option for continuing the treatment, they’ve chosen not to, and, in my eyes, they have effectively expedited Charlie’s death.”
Whiteman said those who study Batten disease globally are also worried that the B.C. decision could set a precedent for U.S. insurance companies, for example, who might consider discontinuing the drug “based on these same very crude criteria.”
The Health Ministry has confirmed the family can access Brineura treatment if it is privately funded. Agofundmepage had raised more than $165,000 by Tuesday at noon.
But Whiteman said the long-term solution is to shift decision-making responsibility “away from a crude clinical score towards a joint decision-making process.”
“It shouldn’t be down to a government agency and the bureaucracy,” said Whiteman. “It should be down to the clinical team that know the child and the family.”
Osborne said in February, she asked Canada’s Drug Agency to review all research and evidence since the drug coverage was first approved in 2019. She said the conclusion was that Charleigh met the “discontinuation” criteria.
“Clinical evidence shows that once a patient has declined in their motor and language functions by a certain amount, Brineura no longer has the benefit of slowing the progression of the disease — although patients can continue to live into mid-adolescence,” the health minister said.
Osborne said it was a tough but “final decision” and had “nothing” to do with the drug’s cost.
But Whiteman questions that assessment. “Frankly, I don’t know what else it could be about, because the clinical team who were looking after Charleigh recommended strongly for the infusions to continue.”
Parents Jori Fales and Trevor Pollock have said they are frustrated that the decision to end the drug coverage was made without a visit to the family.
Whiteman noted that Canada’s Drug Agency appears to have made its decision mostly based on 2018 clinical trial data points that rate motor and language skills. “There is still so much life in this child, well beyond a motor language score.”
Charleigh is the only child in B.C. and one of fewer than 20 in Canada with Batten disease, which began to affect her at the age of three, when she suffered seizures and began to lose her motor and language skills.
Charleigh can’t walk or talk, but her family has said she’s responsive, engaged, laughs when tickled or a joke is made, and loves to be cuddled and hugged.
Before Brineura, she had more than 100 seizures a day, her parents said, adding that has diminished to a few a year, and in recent years she’s had none.
As of Tuesday morning, anonline petitioncalling for the decision to be reversed had garnered almost 6,000 signatures.
Cowichan-Malahat-Langford Conservative MP Jeff Kibble called on federal health minister Marjorie Michel, who is responsible for Canada’s Drug Agency, to review the “heartbreaking decision.”
Kibble said the recommendations from Charleigh’s medical team as well as more recent research should be considered.
“There are less than two weeks before Charleigh’s last infusion wears off and her crippling seizures begin,” said the MP, who urged quick action.
Charleigh’s next infusion date would have been July 3, the day after she turns 10.
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