Patients commends New Cystic Fibrosis Treatment

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On Aug. 25, 1989, an 8-year-old girl with cystic fibrosis wrote in her journal that it was "the most best day" because scientists had "found a Jean for Cistik fibrosis." 

On Thursday, the current head of the National Institutes of Health — who was a member of one of the teams that found the gene — wrote in The New England Journal of Medicine that a triple-drug therapy has been found to be highly effective in treating the life-threatening disorder.

"We hoped that the gene discovery would someday lead to effective treatments for children and adults with cystic fibrosis," Francis Collins wrote. "Now, 30 years later, that time has come."

The drug, called Trikafta, was approved by the Food and Drug Administration last week.

Some 30,000 Americans have been diagnosed with cystic fibrosis, which causes thick mucus buildup in the patient's organs, affecting respiration and digestion. While other drugs have helped lengthen patients' lives, those born with the disease are expected to live only into their 40s.

Past treatments helped only a small percentage of patients, but Trikafta targets Phe508del, the most common mutation of the cystic fibrosis gene. Collins said this means 90% of those suffering from cystic fibrosis — including Jenny, the 8-year-old journal writer — will be helped by the therapy.

Now 38, Jenny McGlincy told The Washington Post that she cried when she read the drug had been approved.

"To think of my lung function improving or my digestion increasing, or even adding a few years to my life that I could spend with my daughter. … Now that it's available, I'm a little like, 'Is this really happening?' " she told the Post.

 Model of collaboration

Cystic fibrosis research has set a standard of how the collaboration between nonprofits and pharmaceutical firms can help develop treatments. Collins points out that the Cystic Fibrosis Foundation, frustrated that gene treatments were slow to be found, decided to invest directly in a small company called Aurora Biosciences, which is now Vertex Pharmaceuticals, the developer of Trikafta.

That collaboration, "now spanning more than two decades, can be seen as an important model for other rare genetic diseases," Collins wrote.

After the discovery of the gene, Collins wrote a song, "Dare to Dream." 

"The lyrics expressed hope that the gene discovery would lead to effective treatments for cystic fibrosis — that someday we would see 'all our brothers and sisters breathing free.' It is profoundly gratifying to see that this dream is coming true," he said.