As a newly minted physician in 1974, Dr. Frank Accurso accepted a pediatric residency at the University of Colorado Health Sciences Center and later chose the subspecialty of pediatric pulmonary medicine. He chose to focus on patients with the recessive genetic disorder Cystic Fibrosis (CF). “When I got into it, CF was really not understood and I felt intrigued by that,” says Accurso. “Then I met the families and they showed such incredible courage in the face of a devastating condition that I wanted to help. I wanted to talk to them. I wanted to explain things as far as we understood them.”
Over his forty-two year career, Accurso’s explanations about CF to his patients and their families have dramatically changed and evolved precisely because of his groundbreaking work. He was an early pioneer and advocate for CF newborn screenings. (In 1982 Colorado was the first state in the nation to require CF newborn screening; the last state implemented it in 2009.) Accurso and his colleagues’ years of research have led to multiple discoveries about the workings of the disease, including the discovery of the CF gene. And he has innovated new precision medicine treatments that target defective proteins caused by specific mutations. All of this work—both with patients and in the laboratory—has played a major role in the dramatic growth in life expectancy for individuals with CF: from 18 years in 1980 to between 37 to 40 years today. It’s a profound list of accomplishments that few can look back on as they retire, which is exactly what Accurso did this summer.
The Importance of Research
“Seeing how outcomes have improved for people with CF goes a long way toward demonstrating the importance of research,” Accurso says. Clinical research with patients takes place at Children’s Hospital Colorado in the Pediatric Clinical and Translational Research Center (CTRC), which is part of the Colorado Clinical and Translational Sciences Institute (CCTSI). Accurso says the CTRC (and its predecessor the Pediatric Clinical Research Center) has been absolutely critical to the development of CF research at the university, the School of Medicine, Children’s Hospital and beyond.
Dr. Accurso (center) is surrounded by colleagues from his research group.
Treatment and research go hand in hand: Accurso estimates that historically 50 percent of all CF patients treated at Children’s were also involved in clinical trials at the CTRC. He says it is the participation in clinical investigation that has led to better lives for people with CF.
As a result, there are now treatments that target the underlying protein defect that causes CF: not just treatments for complications of the disease. In 2012, Accurso led a clinical trial, published in the New England Journal of Medicine, which led to the FDA approved drug Kalydeco, which helps about four percent of CF patients by targeting the mutation and improving lung function. In addition to Kalydeco, Orkambi was approved by the FDA in 2015; it targets yet another specific mutation in order to improve lung function. Accurso hopes that eventually as many as 90 percent of those with CF will benefit from similar therapeutics.
Running Farther Than Ever: Bill Elder
Dr. Bill Elder recently took a breather from moving to talk about the impact “Dr. Frank” has made on his life. Elder was eight-years-old when he was diagnosed with CF and became Accurso’s patient. Elder was under Accurso’s care until he went to college (Stanford University), he participated in a research project with Accurso while in high school and he took part in the clinical trial for Kalydeco. He just graduated from medical school and is moving to California where he’ll start his family medicine internship. “Dr. Frank inspired me to be a doctor and empowered me by teaching me all about the disease and my care,” Elder says.
When Elder was sitting in class one day at Stanford, he received a call from Accurso who was extremely excited about a new clinical trial. Elder enrolled in the Kalydeco trial the summer before he started medical school. “It dramatically changed my life,” he says.
The Kalydeco was delivered to Elder’s house in a little brown box. He describes having a meal, taking the drug, going to bed and then waking up at 3 am thinking that something felt different. “I realized that I couldn’t remember ever being able to breathe in and out of my nose—and I could then. So I go running down the hall and wake my parents up yelling `Kaleydeco is working! Kalydeco is working!’”
Elder’s sense of smell returned, he gained weight and he was able to run farther than ever before. He says he started coughing a lot less. Since taking the drug, his lung function has stayed around 100 percent and hasn’t dropped at all despite being in medical school and being exposed to sick patients.
“I am so incredibly lucky and grateful to have had Dr. Frank in my life to take care of me,” Elder says. “Without him and his deep caring concern, I wouldn’t be able to be healthy enough to be a doctor. He has literally made my dreams come true.”
Elder pauses and continues, “I’d also tell him he’s my hero, but I’ve said that to him a few times already.”
Dr. Frank Accurso (left) with former patient Dr. Bill Elder,
celebrating the FDA approval of CF treatment Kalydeco, which
Accurso helped to develop.