By Wendy Meyer
Frank Accurso, MD, with William Elder, Jr., MD. Photo cour-
tesy of William Elder, Jr., MD
(November 2016) When Frank Accurso, MD, accepted a pediatric residency at the
University of Colorado Health Sciences Center in 1974 and later chose
the subspecialty of pediatric pulmonary medicine, he focused on patients
with the recessive genetic disorder cystic fibrosis (CF).
got into it, CF was really not understood and I felt intrigued by
that,” says Accurso, a CU School of Medicine professor of pediatrics who
retired in June. “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.”
Not only did Accurso explain CF to his
patients and their families, he helped improve their lives, as a pioneer
and advocate for CF newborn screenings, as an innovator of new
precision medicine treatments and as a role model for how to provide
“I am so incredibly lucky and grateful to have had Dr. Frank in my life to take care of me,”says
William Elder, Jr., MD. “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 was eight years old when he was diagnosed with CF and became Accurso’s
patient. Elder remained in his care until Elder went to Stanford
University as an undergraduate to study human biology and ethics in
society. While in high school, Elder participated in a research project
led by Accurso. Elder took part in a clinical trial for Kalydeco, a drug
developed through efforts of the Cystic Fibrosis Foundation and Vertex
Accurso led a clinical trial that showed the
new treatment helps about 4 percent of CF patients by targeting a
genetic mutation and improving lung function. The New England Journal
of Medicine published the results and Kalydeco was approved for use in
Elder was one of those in the 4 percent. When Elder
was sitting in class one day at Stanford, he received a call from
Accurso, who was extremely excited about the potential of the new
clinical trial. Elder enrolled and “it dramatically changed my life,” he
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 a.m. 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, ‘Kalydeco is working! Kalydeco is working!’”
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.
Elder graduated this year from Wright State University Boonshoft School of Medicine in Dayton, Ohio, and has since moved back to California
where he has started his family medicine internship at Sutter Health,
affiliated with the University of California, San Francisco.
“He inspired me to be a doctor and empowered me by teaching me all about the disease and my care,” Elder says.
Frank Accurso, MD, with a patient. Photo by Tia Brayman.
Over his 42-year career, research by Accurso and his colleagues have led to multiple discoveries about the workings of the disease,
including the discovery of the CF gene. He helped develop precision
medicine treatments that target defective proteins caused by specific
Accurso’s profound list of accomplishments — with
patients and in the laboratory — has played a major role in the dramatic
growth in life expectancy for people with CF: from 18 years in 1980 to
between 37 years to 40 years today.
The Importance of Research
how outcomes have improved for people with CF goes a long way toward
demonstrating the importance of research,” Accurso says.
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), which was created in 2008 with funding from the Clinical and
Translational Science Award initiative of the National Institutes of
Health. Accurso says the CTRC and its predecessor, the Pediatric
Clinical Research Center, have been absolutely critical to the
development of CF research at the University, the School of Medicine,
Children’s Hospital and beyond.
Treatment breakthroughs depend on
research, and clinical research opportunities are fostered at the
University of Colorado Anschutz Medical Campus by the CCTSI. Accurso
estimates that about half of all CF patients treated at Children’s were
also involved in clinical trials at the CTRC. Such investigations have
improved lives for people with CF.
As a result of that research,
there are now treatments targeting the underlying protein defect that
causes CF rather than simply addressing complications of the disease. In
addition to Kalydeco, which targets the mutation and improves lung
function, another drug, Orkambi, was approved by the U.S. Food and Drug
Administration in 2015, targeting 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.
is living proof of the benefits of research and clinical care and he is
carrying that message forward. During Elder’s third year of medical
school, for example, he was invited to be a guest of the First Lady at
the 2015 State of the Union Address. He later served as a guest at the
President’s Precision Medicine Initiative.
While Elder has been
an eloquent voice on the importance of research in medicine, he also
notes that the personal touch matters and that Accurso is a role model.
“I’d also tell him he’s my hero,” Elder says, “but I’ve said that to him a few times already.”