Cystic fibrosis was once a terrible, probably deadly diagnosis, destroying a patient’s ability to breathe and assimilate food – but a revolutionary new treatment offers a reason for hope.
And on Thursday, the three scientists who developed the clinical progress received America’s most famous scientific award, receiving the Lasker Award.
The top price is often referred to as a pre-traveler for a potential Nobel and this year recognized pulmonologist Michael Welsh along with researchers Jesus Gonzalez and Paul Negulescu from the American laboratory top.
Their research has shed light on the causes of the disease and has caused a new category of innovative drugs, including the Kaftrio flagship – known as Trikafta in the United States – which are able to stabilize the otherwise weakening situation.
“It’s incredible, it’s better than I ever hoped,” Welow told AFP. “You see these kids and they look healthy and they don’t cough. They run and play.”
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“I almost can’t believe it. Then they go, and they get married and have children and they continue with their lives.”
This reality is intense contrast to Wales’ memories from the early days of his career, when a diagnosis of cystic fibrosis was a possible death penalty in childhood or adolescence.
The new award -winning treatment has been welcomed as “revolutionary” by patients’ defense organisms.
It works by the treatment of the underlying causes of hereditary disease – which causes destruction of the lungs and the digestive system – and not its symptoms.
‘Not completely broken’
About 100,000 people worldwide are estimated to suffer from cystic fibrosis, in which sticky mucus accumulates in the lungs, digestive tract and other parts of the body.
After the discovery of the 1989 CFTR gene – whose mutation was recognized as the cause of the disease – Wales began to analyze the problem with fellow researchers.
“We thought, if we understand how the CFTR works, we have the opportunity to fix it,” he said.
Gaining a better understanding of how the protein encoding the gene to lead the pulmonologist under a path that seeks how genetic mutations reduce its function.
Wales recognized two major abnormalities caused by the most common mutation: a trapping of protein species within the cell and reduced efficiency.
The medical discovery emerged from experiments, especially some that showed how the decrease temperature could help release trapped protein.
“This meant it wasn’t completely broken,” Wales remembered with enthusiasm.
Armed with these discoveries, the American Cystic Association Foundation approached researchers Gonzalez and Negulescu, who began to study the ability to chemically reversed recognized malfunctions.
‘Go for gold’
The concept of gene therapy – which would aim to directly reverse gene mutations – seemed on paper to be the simplest path.
But when it didn’t work as we hoped, patient organizations began to explore other options.
Gonzalez developed an innovative research technique using dyes that allowed the testing of thousands of chemicals in record times.
“Without the projection, we would never find these molecules,” he said.
It was a process similar to “Panning for Gold”, Negulescu recalled.
But in the end their job was repaid. They identified a handful of molecules that led to the birth of a new category of treatments.
These molecules proved to be capable of restoring mobility in glued protein and improve its function.
Kaftrio/Trikafta – approved state in 2019 and is classified by the World Health Organization as a basic treatment in 2025 – is between them.
But their significant cost is an obstacle to some patients, especially as treatment is lifelong, and treatment is ineffective in a small minority of patients, including those with different mutations.
“The project is not happening,” said Negulescu.
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