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University of Colorado Denver | Anschutz Medical Campus

University of Colorado Denver, Newsroom
 

Cystic Fibrosis “Miracle Drug”

8-year-old benefits from newly approved Kalydeco


Annelise Heinicke
​by Amy Vaerewyck | University Communications

It was Valentine’s Day 2012. A UPS delivery truck pulled up in front of Courtney and Jen Heinicke’s house in Durango, Colo. When the delivery man handed over their package, the husband and wife came at him with hugs.
 
In their hands, they now held what Jen calls “a miracle in a box.” The “miracle” was a drug called Kalydeco for their 8-year-old daughter, Annelise, who has cystic fibrosis (CF).
 
A recessive genetic disorder, CF inhibits the regulation of sweat, digestive fluids and mucus—which causes difficulty breathing, lung and sinus infections and poor growth. According to the Cystic Fibrosis Foundation (CFF), approximately 30,000 Americans have CF, and the predicted median age of survival for a person with CF is in the late 30s.
 
Ever since he diagnosed Annelise with CF when she was an infant, Frank Accurso, MD, professor of pediatrics and physiology and biophysics at the CU School of Medicine, had only been able to treat the symptoms of her disorder. Now, he could finally address the root cause of her CF—and give her a chance at a normal life.
 
That night, the Heinickes had a ceremonious Valentine’s Day dinner, as Annelise washed down the Kalydeco pill—the first of many more—with a tall glass of milk.
 
Changing a Child’s Life
Every morning before school, Annelise puts on a 15-pound vibrating vest and sits for a half-hour with a nebulizer tube to her mouth. The daily treatment loosens the mucus in her lungs, which is caused by the mutation in her cystic fibrosis transmembrane conductance regulator (CFTR) protein gene.
 
“It’s not such a big deal,” Annelise said. “I’m used to it.”

Annelise Heinicke and her brotherHer 10-year-old brother sits with her during what he calls “bumpies,” and the two spend the time reading books. At a recent slumber party, she let her friends take turns trying on the vest and singing, as it shook their chests and voices.
 
In addition to the vest treatment, Annelise swallows about 30 pills every day. Included in that count now is Kalydeco, the first drug ever to help improve the function of the defective CFTR protein. This, in turn, helps thin the thick, sticky mucous that builds up in her lungs.
 
Since Annelise started taking Kalydeco last year, her mother has already noticed a positive difference in Annelise’s energy and endurance—not to mention her performance on the soccer field. And eventually, Kalydeco may allow her to decrease her other medications and treatments.
 
“It really is a life-changing medication,” Jen said. “We’ve raised her [to believe] that she can do anything she wants, and now that might actually be true.”
 
Discovering a Miracle
Accurso—or “Dr. Frank” as the Heinickes call him—has been researching cystic fibrosis since the early 1970s when little was known about the disease. When he came to the University of Colorado Hospital in 1974 for his pediatric residency, he learned what a devastating impact CF has on families.
 
At that time, the only hope for people with CF was treatment of the disease’s symptoms—including chest physical therapy, which involved literally pounding on a patient’s chest. In 1989, researchers discovered the CF gene—and the search began for a compound that would make the CFTR protein work properly.
 
In 2003, after testing more than 100,000 compounds, Vertex pharmaceuticals, in collaboration with CFF, found VX-770—the drug compound that would come to be named “Kalydeco.” Accurso, working with Vertex and CFF, served as lead investigator for the first clinical trial of the new drug.
 
“We found that the drug worked beyond expectations, improving lung function and quality of life,” said Accurso, who serves as research director for the Cystic Fibrosis Center at Children’s Hospital Colorado—which is known for having developed newborn CF screening and early CF diagnosis.
 
“We had never had anything that had worked so well,” he said, remembering the intense emotions he felt at the time. “I can remember presenting it to a group of CF investigators, and it was hard to hold it together.”
 
Helping 100% of Patients
The U.S. Food and Drug Administration was expected to approve Kalydeco for use in CF patients in June 2012, but the drug was so effective that CF investigators worked with the Annelise Heinicke and Frank Accurso, MD
FDA to approve it in late January 2012—which was when the Heinickes got the fateful UPS delivery.
 
Annelise currently takes Kalydeco as part of a “Goal Study” to help make the drug effective for more CF patients. Accurso follows a total of 20 kids, age 6-25, who are taking Kalydeco. The drug seems effective and safe, with few to no side effects, Accurso said, but it doesn’t yet help everyone.
 
Right now, because Kalydeco treats a very specific gene type, it only works for 5 percent of people with CF. The drugs that are in clinical trials right now could treat 65 percent of people with CF and there are clinical trials planned that would treat 90 percent, Accurso said.
 
“Our goal is 100 percent,” Accurso said. “The courage of the CF families who participate in trials is remarkable, and we need these treatments for everybody.”
 
Seizing the Day
Whenever she spends a night away from home, Annelise has to take with her all her medications, her vest and her nebulizer. If she’s not near an electrical outlet, she also has Annelise Heinicke rafting
to have a heavy gas-powered generator for the vest. CF medications are expensive, and Annelise must make frequent trips across the state to the Anschutz Medical Campus for treatment. In spite of all of this, the Heinickes are a family of adventurers.
 
“The silver lining of CF is that it gives you permission to seize the day,” Jen said.
Together—with Annelise’s big brother often helping her carry her backpack of equipment—the family has taken a vacation to Hawaii, spent many days hiking in the mountains and taken week-long river rafting trips. According to Annelise’s count, she’s been on 40 camping trips in her eight years of life.
 
When Annelise grows up she wants to be a paleontologist. Thanks to Accurso and other CF investigators, Annelise’s dreams of digging up dinosaur bones may become a reality.

Published: March 4, 2013
Contact: stories@ucdenver.edu

 

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