mosquito-borne diseases affect up to 700 million people each year. learn more

cystic fibrosis

getting sick to get better: cystic fibrosis patients worry about access to 'breakthrough' drug

the criteria needed to access the breakthrough drug has advocates pointing to the importance of having patients and caregivers involved when decisions are made about treatment eligibility.

by maja begovic

oct 5 2022

5 minute read

join the conversation

madi vanstone was seven months old when she was diagnosed with cf

it’s only been a few weeks since madi vanstone began taking trikafta, but she is already experiencing improvements in her condition. supplied

trikafta — a type of precision medicine that has the potential to treat over 90 per cent of people affected by cystic fibrosis (cf) — is poised to change the course of the disease, but some patients are worried that they may be denied continued access to the drug.

cystic fibrosis is a rare, progressive, life-threatening disease that causes thick mucus to accumulate in the lungs, digestive tract, and other parts of the body, leading to severe respiratory and digestive problems as well as other complications such as infections and diabetes. cf is caused by a defective protein, according to the fda, that results from mutations in the cystic fibrosis transmembrane conductance regulator (cftr) gene, which balances salt and water on many surfaces in the body, including the lungs.

trikafta consists of three components that work together to target and correct the defective cftr protein that leads to the disease, and is the first approved treatment that is effective for cf patients 12 years and older with at least one mutation. while trikafta isn’t a cure for cf, clinical trials have shown that it can reduce the severity of illness, increase weight and energy, improve lung function and overall quality of life. in fact, it’s been called a “breakthrough drug” , and the institute of clinical and economic review (icer) described the treatment as “superior’ . but the criteria that makes it difficult to access it — and stay on it — has advocates pointing to the importance of having patients and caregivers involved when decisions are made about eligibility for new innovative treatments.

getting sick to get better

twenty-year-old madi vanstone has been taking kalydeco — a drug that she, at age 11, alongside her mother beth, successfully lobbied the ontario government to have funded by the province. madi’s lung function on kalydeco improved dramatically — from a low 70s to 115 per cent of expected value.

madi vanstone and her mother beth, lobbied the canadian government and advocated for the drug kalydeco to be funded by the province. supplied

but patients who are on trikafta must demonstrate that their health is improving in order to access and continue the treatment — the drug’s renewal criteria outlines several different expected clinical outcomes, including one that underscores that patients must gain a five per cent in lung function six months after starting treatment. this meant that madi needed to worsen her symptoms in order to have a shot at getting the new treatment — so she stopped taking kalydeco, a decision that in just 48 hours, resulted in many of her symptoms returning, like headaches and a cough, and within three weeks, her lung function had dropped by 21 per cent.

“it’s hard enough having to fight for your life every day,” she says. “but having to fight for access to something that could save it on top of that is indescribable. it hurts. knowing it exists, but having it kept from you seems so unfair, especially when it’s your life on the line.”

dr. elizabeth tullis, professor of medicine at university of toronto and medical director of the toronto adult cystic fibrosis clinic at st. michael’s hospital — the largest cf clinic in north america — says that while she empathizes with patients who are worried about the future, there are options available to ensure ongoing access to trikafta, such as getting your doctor to advocate for you.

physicians have the ability to approach ontario’s exceptional access program (eap) and present unique patient cases while underscoring the subtleties and improvements that can help secure ongoing access to the drug, she says. and since some patients may experience a dramatic increase in symptoms, she recommends that individuals who are concerned about continued access to the drug have a discussion with their cf team or physician to learn about the choices that are available to them.

tullis also notes that the ontario government has been available and open to having a dialogue about unique cases and that some of the patients at the cf clinic at st. michael’s hospital have already reached the one-year mark on trikafta treatment and none have been denied access at renewal.

“i’m not going to gamble with your health,” tullis tells her concerned patients. “i’ve been involved in the clinical trials, and i know the data very well from this study. i’m sure that one way or another, we’re going to continue to get access to this medication.”

but jacob jaramillo, co-founder and director of cf get loud — the biggest grassroots cf movement in the country that is involved in drug access advocacy, as well as providing disease education and resources — believes that because physicians don’t have full control over the decision of whether a patient can continue on trikafta, they may be making recommendations out of an abundance of caution to ensure that all, and not just some, of the drug’s renewal criteria are met.

“if we can shine a light on madi’s story and other unique patient stories, we can help canadians understand that policy is not completely broken, but there are special cases that fall through the cracks,” says jaramillo, who is also living with cf.

madi vanstone was seven months old when she was diagnosed with cystic fibrosis. supplied

the bottom line is that s omeone who is living with a rare or progressive disease should never have to feel like they need to stop their existing therapy out of fear that they may not qualify for new treatment, says beth vanstone, madi’s mother. she would like to see trikafta’s renewal criteria around lung function be revised to better reflect the reality of individuals who are transitioning from one treatment to another.

‘we need less closed-door negotiations’

but when asked to comment, the canadian agency for drugs and technologies (cadth) — which was involved in developing the recommendations for trikafta’s renewal criteria — said in an email statement that an improvement in lung function relative to baseline is only one of the six health outcomes that can be used for the purposes of drug renewal. other criteria includes a decrease in the total number of days a patient received treatment with oral or iv antibiotics, a decrease in the number of pulmonary exacerbations and hospitalizations, no decline in body mass index, and an improvement in respiratory domain and quality of life.

and as for vanstone’s comment about revising the criteria, cadth confirmed that it has “standard processes in place that allow us to revisit previous recommendations if the participating public drug programs encounter challenges in implementing the existing reimbursement conditions.”

so far, it has not received any requests to revisit the recommendation related to gains in lung function.

it’s only been a few weeks since madi began taking trikafta, but the headaches and the cough have already resolved. because her lung function was so low at baseline testing, beth’s hope and expectation is that her daughter’s numbers will increase again and that madi, who was diagnosed with cf when she was just seven months old, will continue to have ongoing access to trikafta.

“i will forever be grateful to the pharmaceutical industry, and the companies that are investing in rare diseases,” says beth. “but we need more collaboration, less closed-door negotiations, and we need patients and caregivers at the table when decisions that directly impact them are being made.”

maja begovic is a toronto-based writer.

don’t miss a thing: sign-up for healthing’s newsletter

thank you for your support. if you liked this story, please send it to a friend. every share counts.

getting sick to get better: cystic fibrosis patients worry about access to 'breakthrough' drug

the criteria needed to access the breakthrough drug has advocates pointing to the importance of having patients and caregivers involved when decisions are made about treatment eligibility.

researchers find new targets for cystic fibrosis therapy

living with cystic fibrosis at 5-years-old

getting sick to get better

‘we need less closed-door negotiations’

advertisement

getting sick to get better: cystic fibrosis patients worry about access to 'breakthrough' drug

the criteria needed to access the breakthrough drug has advocates pointing to the importance of having patients and caregivers involved when decisions are made about treatment eligibility.

related stories

researchers find new targets for cystic fibrosis therapy

living with cystic fibrosis at 5-years-old

money and drugs: playing the drug access game

advertisement

getting sick to get better

advertisement

advertisement

‘we need less closed-door negotiations’

advertisement

share story