‘Tremendous hope’: New cystic fibrosis treatment changing lives

 

More than 70,000 people are thought to be affected by cystic fibrosis, a condition in which a defective gene causes sticky mucus to build up in the lungs, digestive tract, and other parts of the body.
—
Photographer: Phira Phonruewiangphing / Getty Images
through ETX Studio

PARIS, September 25 —
David Fiant claims that his cystic fibrosis and the arduous therapy required were so severe that he "couldn't tell if I was living to heal myself or healing myself to live."


He was on oxygen therapy and had a six-hour daily care regimen while waiting for a lung transplant, as well as three to four weeks of antibiotic infusions per year. 

Then he became one of the first people in France to receive a new triple-drug treatment, which has been heralded as a game changer for people suffering from the rare life-threatening disorder.

"One morning, I took my first dose of the medication.
"By 3 p.m., I was feeling the first effects," he explained. 

 For the first time in years, the 40-year-old was able to shower by himself, climb 15 steps at once, and, most importantly, "accompanies my daughter to buy comic books."


Fiant's doctor could hear air circulating in his lungs when he examined him after starting the treatment.
He said it had never happened before.

For the first time in years he was able to shower by himself, climb 15 steps at once and above all “accompany my daughter to buy comic books”, the 40-year-old said.

When Fiant’s doctor examined him after he started the treatment, he could hear air circulating in his lungs. That had never happened before, he said.

Fiant’s regime of care has since been drastically cut back — and he has become the president of the French non-profit Vaincre la Mucoviscidose (Defeat Cystic Fibrosis).

While the treatment’s results were “spectacular”, he emphasised that it was no miracle.

“There is still no cure for cystic fibrosis,” he stressed.
Fiant's care regimen has since been drastically reduced, and he is now the president of the French non-profit Vaincre la Mucoviscidose (Defeat Cystic Fibrosis).


While the results of the treatment were "spectacular," he stressed that it was not a miracle.

"There is still no cure for cystic fibrosis," he stated emphatically.

Life expectancy rising

It is estimated that more than 70,000 people worldwide suffer from the inherited disease, in which a defective gene causes sticky mucus to accumulate in the lungs, digestive tract, and other parts of the body.


It causes breathing difficulties as well as long-term complications such as infection, resulting in patients having significantly shorter life expectancies.


However, Fiant's triple-pill treatment, known as Kaftrio in Europe and Trikafta in the US, has had a significant impact since it was first approved in the US in 2019.


According to the Cystic Fibrosis Foundation, the life expectancy of people with cystic fibrosis born between 2017 and 2021 in the United States is now 53, up from 38 a decade ago.

Kaftrio has been hailed as a game changer because it addresses the root cause of the disease by repairing a mutated defect in the CFTR gene. 

In August 2020, the European Union's medicines agency and the United Kingdom approved the treatment.


However, only 40% of the 7,500 cystic fibrosis patients in France are able to use the treatment.


It is not approved for use in children under the age of six, and 15% of patients have a genetic profile that makes the treatment ineffective.


Around 900 patients who have had organ transplants such as lungs or livers are also ineligible. 

‘Sword of Damocles’ 

Sabrina Perquis, 41, was filled with "great hope" as the new treatment arrived in France.


However, she had a transplant 15 years ago and was unable to take Kaftrio.

"It was a hard knock," she admitted.

"After a transplant, you live with a sword of Damocles hanging over your head because rejection is always a possibility," she added.


"We ask not to be forgotten."
The search for a cure for all patients must continue."


Several research projects are in various stages of development, with the goal of finding a cure for patients with rare genetic mutations. \

Other questions remain, such as whether the treatment completely stops the disease's progression or just slows it down, according to Vaincre la Mucoviscidose vice-president Pierre Foucaud.


From 2019 to 2021, the number of cystic fibrosis patients who received an organ transplant fell from 21 to just two per quarter in France, owing to hopes that Kaftrio would eliminate the need for the method.


"Even so, will these transplants simply be postponed by 10 to 15 years?"
Foucaud inquired.
"We have no clue."


Kaftrio has "opened up a significant hope for all patients," he says, but more needs to be done.
— AFP